nsv917712
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:93,808
- 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: 424 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 9 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 |
---|---|---|---|---|---|---|---|---|---|
nsv917712 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,633,252 | 8,727,059 |
nsv917712 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 8,601,293 | 8,695,100 |
nsv917712 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 8,561,293 | 8,655,100 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1605349 | copy number gain | ISCA_ID_pn_1102 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 2 |
nssv1605531 | copy number gain | ISCA_ID_pn_1265 | Oligo aCGH | Probe signal intensity | Abnormality of limb bone morphology | Benign | Submitter | 3 |
nssv1606565 | copy number gain | ISCA_ID_pn_2179 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 2 |
nssv1607182 | copy number gain | ISCA_ID_pn_580 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1605349 | Remapped | Perfect | NC_000023.11:g.(?_ 8633252)_(8727059_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,633,252 | 8,727,059 |
nssv1605531 | Remapped | Perfect | NC_000023.11:g.(?_ 8633252)_(8727059_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,633,252 | 8,727,059 |
nssv1606565 | Remapped | Perfect | NC_000023.11:g.(?_ 8633252)_(8727059_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,633,252 | 8,727,059 |
nssv1607182 | Remapped | Perfect | NC_000023.11:g.(?_ 8633252)_(8727059_ ?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,633,252 | 8,727,059 |
nssv1605349 | Remapped | Perfect | NC_000023.10:g.(?_ 8601293)_(8695100_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,601,293 | 8,695,100 |
nssv1605531 | Remapped | Perfect | NC_000023.10:g.(?_ 8601293)_(8695100_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,601,293 | 8,695,100 |
nssv1606565 | Remapped | Perfect | NC_000023.10:g.(?_ 8601293)_(8695100_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,601,293 | 8,695,100 |
nssv1607182 | Remapped | Perfect | NC_000023.10:g.(?_ 8601293)_(8695100_ ?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 8,601,293 | 8,695,100 |
nssv1605349 | Submitted genomic | NC_000023.9:g.(?_8 561293)_(8655100_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,561,293 | 8,655,100 | ||
nssv1605531 | Submitted genomic | NC_000023.9:g.(?_8 561293)_(8655100_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,561,293 | 8,655,100 | ||
nssv1606565 | Submitted genomic | NC_000023.9:g.(?_8 561293)_(8655100_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,561,293 | 8,655,100 | ||
nssv1607182 | Submitted genomic | NC_000023.9:g.(?_8 561293)_(8655100_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 8,561,293 | 8,655,100 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1605349 | ISCA_ID_pn_1102 | NCBI36: NC_000023.9:g.(?_8561293)_(8655100_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 21 weeks gestation | 2 |
nssv1605531 | ISCA_ID_pn_1265 | NCBI36: NC_000023.9:g.(?_8561293)_(8655100_?)dup | copy number gain | Abnormality of limb bone morphology | Benign | Submitter | Female | 21 weeks gestation | 3 |
nssv1606565 | ISCA_ID_pn_2179 | NCBI36: NC_000023.9:g.(?_8561293)_(8655100_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Male | 16 weeks gestation | 2 |
nssv1607182 | ISCA_ID_pn_580 | NCBI36: NC_000023.9:g.(?_8561293)_(8655100_?)dup | copy number gain | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 10 weeks gestation | 3 |