nsv917539
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:25
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,919,347
- Publication(s):Wapner et al. 2012
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 11660 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 11592 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 7579 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv917539 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nsv917539 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nsv917539 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv1605324 | copy number gain | ISCA_ID_pn_1080 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605329 | copy number gain | ISCA_ID_pn_1084 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605366 | copy number gain | ISCA_ID_pn_1117 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605374 | copy number gain | ISCA_ID_pn_1124 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605465 | copy number gain | ISCA_ID_pn_1206 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605701 | copy number gain | ISCA_ID_pn_1416 | Oligo aCGH | Probe signal intensity | Thickened nuchal skin fold | Benign | Submitter | 3 |
| nssv1605742 | copy number gain | ISCA_ID_pn_1453 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605853 | copy number gain | ISCA_ID_pn_1552 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1605979 | copy number gain | ISCA_ID_pn_1665 | Oligo aCGH | Probe signal intensity | Double outlet right ventricle | Benign | Submitter | 3 |
| nssv1606330 | copy number gain | ISCA_ID_pn_1976 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Benign | Submitter | 3 |
| nssv1606442 | copy number gain | ISCA_ID_pn_2072 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1606539 | copy number gain | ISCA_ID_pn_2157 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1606573 | copy number loss | ISCA_ID_pn_2186 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1606643 | copy number loss | ISCA_ID_pn_2250 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1606997 | copy number loss | ISCA_ID_pn_415 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1607033 | copy number loss | ISCA_ID_pn_448 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1607035 | copy number loss | ISCA_ID_pn_449 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Benign | Submitter | 1 |
| nssv1607053 | copy number gain | ISCA_ID_pn_466 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1607130 | copy number loss | ISCA_ID_pn_535 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1607272 | copy number gain | ISCA_ID_pn_660 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Benign | Submitter | 3 |
| nssv1607289 | copy number gain | ISCA_ID_pn_68 | Oligo aCGH | Probe signal intensity | Hypoplastic heart | Benign | Submitter | 3 |
| nssv1607395 | copy number loss | ISCA_ID_pn_771 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
| nssv1607554 | copy number gain | ISCA_ID_pn_914 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1607561 | copy number gain | ISCA_ID_pn_920 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
| nssv1607643 | copy number loss | ISCA_ID_pn_994 | Oligo aCGH | Probe signal intensity | Omphalocele | Benign | Submitter | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1605324 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605329 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605366 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605374 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605465 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605701 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605742 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605853 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605979 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606330 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606442 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606539 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606573 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606643 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1606997 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607033 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607035 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607053 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607130 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607272 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607289 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607395 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607554 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607561 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1607643 | Remapped | Pass | NC_000015.10:g.(?_ 20380722)_(2230006 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,380,722 | 22,300,068 |
| nssv1605324 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605329 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605366 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605374 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605465 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605701 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605742 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605853 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605979 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606330 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606442 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606539 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606573 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606643 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1606997 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607033 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607035 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607053 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607130 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607272 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607289 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607395 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607554 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607561 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1607643 | Remapped | Pass | NC_000015.9:g.(?_2 0585975)_(22588019 _?)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 20,585,975 | 22,588,019 |
| nssv1605324 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605329 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605366 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605374 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605465 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605701 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605742 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605853 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1605979 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606330 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606442 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606539 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606573 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606643 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1606997 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607033 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607035 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607053 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607130 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607272 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607289 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607395 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607554 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607561 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 | ||
| nssv1607643 | Submitted genomic | NC_000015.8:g.(?_1 8845989)_(20089383 _?)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 18,845,989 | 20,089,383 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Gender | Age | Copy number |
|---|---|---|---|---|---|---|---|---|---|
| nssv1605324 | ISCA_ID_pn_1080 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 16 weeks gestation | 3 |
| nssv1605329 | ISCA_ID_pn_1084 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 20 weeks gestation | 3 |
| nssv1605366 | ISCA_ID_pn_1117 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 17 weeks gestation | 3 |
| nssv1605374 | ISCA_ID_pn_1124 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 11 weeks gestation | 3 |
| nssv1605465 | ISCA_ID_pn_1206 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 10 weeks gestation | 3 |
| nssv1605701 | ISCA_ID_pn_1416 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Thickened nuchal skin fold | Benign | Submitter | Male | 13 weeks gestation | 3 |
| nssv1605742 | ISCA_ID_pn_1453 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 11 weeks gestation | 3 |
| nssv1605853 | ISCA_ID_pn_1552 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 17 weeks gestation | 3 |
| nssv1605979 | ISCA_ID_pn_1665 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Double outlet right ventricle | Benign | Submitter | Female | 21 weeks gestation | 3 |
| nssv1606330 | ISCA_ID_pn_1976 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Increased nuchal translucency | Benign | Submitter | Male | 12 weeks gestation | 3 |
| nssv1606442 | ISCA_ID_pn_2072 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 12 weeks gestation | 3 |
| nssv1606539 | ISCA_ID_pn_2157 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 20 weeks gestation | 3 |
| nssv1606573 | ISCA_ID_pn_2186 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 13 weeks gestation | 1 |
| nssv1606643 | ISCA_ID_pn_2250 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 10 weeks gestation | 1 |
| nssv1606997 | ISCA_ID_pn_415 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 10 weeks gestation | 1 |
| nssv1607033 | ISCA_ID_pn_448 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 13 weeks gestation | 1 |
| nssv1607035 | ISCA_ID_pn_449 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Increased nuchal translucency | Benign | Submitter | Male | 12 weeks gestation | 1 |
| nssv1607053 | ISCA_ID_pn_466 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 13 weeks gestation | 3 |
| nssv1607130 | ISCA_ID_pn_535 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 13 weeks gestation | 1 |
| nssv1607272 | ISCA_ID_pn_660 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Increased nuchal translucency | Benign | Submitter | Male | 12 weeks gestation | 3 |
| nssv1607289 | ISCA_ID_pn_68 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Hypoplastic heart | Benign | Submitter | Male | 20 weeks gestation | 3 |
| nssv1607395 | ISCA_ID_pn_771 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 17 weeks gestation | 1 |
| nssv1607554 | ISCA_ID_pn_914 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 16 weeks gestation | 3 |
| nssv1607561 | ISCA_ID_pn_920 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 16 weeks gestation | 3 |
| nssv1607643 | ISCA_ID_pn_994 | NCBI36: NC_000015.8:g.(?_18845989)_(20089383_?)del | copy number loss | Omphalocele | Benign | Submitter | Male | 17 weeks gestation | 1 |