nsv3915533
- 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:5,747,371
- Description:GRCh38/hg38 9q21.33-22.31(chr9:86079851-91827221)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: 15267 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 15199 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 3967 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915533 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 86,079,851 | 91,827,221 |
| nsv3915533 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 88,694,766 | 94,589,503 |
| nsv3915533 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 87,884,586 | 93,629,324 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135929 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137602.7, VCV000148528.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135929 | Submitted genomic | NC_000009.12:g.(?_ 86079851)_(9182722 1_?)del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 86,079,851 | 91,827,221 |
| nssv15135929 | Submitted genomic | NC_000009.11:g.(?_ 88694766)_(9458950 3_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 88,694,766 | 94,589,503 |
| nssv15135929 | Submitted genomic | NC_000009.10:g.(?_ 87884586)_(9362932 4_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 87,884,586 | 93,629,324 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135929 | GRCh37: NC_000009.11:g.(?_88694766)_(94589503_?)del, GRCh38: NC_000009.12:g.(?_86079851)_(91827221_?)del, NCBI36: NC_000009.10:g.(?_87884586)_(93629324_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137602.7, VCV000148528.2 | 1 |