nsv3917587
- 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:3,688,793
- Description:GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)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: 12031 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 12033 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3143 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917587 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 125,993,583 | 129,682,375 |
| nsv3917587 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 128,755,862 | 132,444,654 |
| nsv3917587 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 127,795,683 | 131,484,475 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134340 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052923.6, VCV000059125.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134340 | Submitted genomic | NC_000009.12:g.(?_ 125993583)_(129682 375_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 125,993,583 | 129,682,375 |
| nssv15134340 | Submitted genomic | NC_000009.11:g.(?_ 128755862)_(132444 654_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 128,755,862 | 132,444,654 |
| nssv15134340 | Submitted genomic | NC_000009.10:g.(?_ 127795683)_(131484 475_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 127,795,683 | 131,484,475 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134340 | GRCh37: NC_000009.11:g.(?_128755862)_(132444654_?)del, GRCh38: NC_000009.12:g.(?_125993583)_(129682375_?)del, NCBI36: NC_000009.10:g.(?_127795683)_(131484475_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052923.6, VCV000059125.1 | 1 |