nsv917662
- Organism: Homo sapiens
- Study:nstd75 (ClinGen Prenatal)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:127,183
- 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: 1810 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1810 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1132 SVs from 32 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 |
---|---|---|---|---|---|---|---|---|---|
nsv917662 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nsv917662 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nsv917662 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
---|---|---|---|---|---|---|---|---|
nssv1605725 | copy number loss | ISCA_ID_pn_1438 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
nssv1606059 | copy number loss | ISCA_ID_pn_1735 | Oligo aCGH | Probe signal intensity | Increased nuchal translucency | Benign | Submitter | 1 |
nssv1606388 | copy number loss | ISCA_ID_pn_2027 | Oligo aCGH | Probe signal intensity | Complete atrioventricular canal defect | Benign | Submitter | 1 |
nssv1606670 | copy number loss | ISCA_ID_pn_2274 | Oligo aCGH | Probe signal intensity | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | 1 |
nssv1606676 | copy number loss | ISCA_ID_pn_2278 | Oligo aCGH | Probe signal intensity | Ambiguous genitalia | Benign | Submitter | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1605725 | Remapped | Perfect | NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nssv1606059 | Remapped | Perfect | NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nssv1606388 | Remapped | Perfect | NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nssv1606670 | Remapped | Perfect | NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nssv1606676 | Remapped | Perfect | NC_000008.11:g.(?_ 39401339)_(3952852 1_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,401,339 | 39,528,521 |
nssv1605725 | Remapped | Perfect | NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nssv1606059 | Remapped | Perfect | NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nssv1606388 | Remapped | Perfect | NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nssv1606670 | Remapped | Perfect | NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nssv1606676 | Remapped | Perfect | NC_000008.10:g.(?_ 39258858)_(3938604 0_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,258,858 | 39,386,040 |
nssv1605725 | Submitted genomic | NC_000008.9:g.(?_3 9378015)_(39505197 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 | ||
nssv1606059 | Submitted genomic | NC_000008.9:g.(?_3 9378015)_(39505197 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 | ||
nssv1606388 | Submitted genomic | NC_000008.9:g.(?_3 9378015)_(39505197 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 | ||
nssv1606670 | Submitted genomic | NC_000008.9:g.(?_3 9378015)_(39505197 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 | ||
nssv1606676 | Submitted genomic | NC_000008.9:g.(?_3 9378015)_(39505197 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 39,378,015 | 39,505,197 |
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 |
---|---|---|---|---|---|---|---|---|---|
nssv1605725 | ISCA_ID_pn_1438 | NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 17 weeks gestation | 1 |
nssv1606059 | ISCA_ID_pn_1735 | NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del | copy number loss | Increased nuchal translucency | Benign | Submitter | Male | 12 weeks gestation | 1 |
nssv1606388 | ISCA_ID_pn_2027 | NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del | copy number loss | Complete atrioventricular canal defect | Benign | Submitter | Male | 19 weeks gestation | 1 |
nssv1606670 | ISCA_ID_pn_2274 | NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del | copy number loss | Developmental delay AND/OR other significant developmental or morphological phenotypes | Benign | Submitter | Female | 10 weeks gestation | 1 |
nssv1606676 | ISCA_ID_pn_2278 | NCBI36: NC_000008.9:g.(?_39378015)_(39505197_?)del | copy number loss | Ambiguous genitalia | Benign | Submitter | Male | 25 weeks gestation | 1 |