nsv3922263
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:3,598,246
- Description:GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9078 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 9078 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2226 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3922263 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 123,095,598 | 126,693,843 |
nsv3922263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 125,857,877 | 129,456,122 |
nsv3922263 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 124,897,698 | 128,495,943 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15138174 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141589.4, VCV000153090.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15138174 | Submitted genomic | NC_000009.12:g.(?_ 123095598)_(126693 843_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 123,095,598 | 126,693,843 |
nssv15138174 | Submitted genomic | NC_000009.11:g.(?_ 125857877)_(129456 122_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 125,857,877 | 129,456,122 |
nssv15138174 | Submitted genomic | NC_000009.10:g.(?_ 124897698)_(128495 943_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 124,897,698 | 128,495,943 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15138174 | GRCh37: NC_000009.11:g.(?_125857877)_(129456122_?)del, GRCh38: NC_000009.12:g.(?_123095598)_(126693843_?)del, NCBI36: NC_000009.10:g.(?_124897698)_(128495943_?)del | copy number loss | tested-inconclusive | See cases | Pathogenic | ClinVar | RCV000141589.4, VCV000153090.2 | 1 |