nsv3923672
- 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:2,160,499
- Description:GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 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: 8590 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 8592 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2226 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923672 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 127,919,476 | 130,079,974 |
| nsv3923672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,681,755 | 132,842,253 |
| nsv3923672 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 129,721,576 | 131,882,074 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134456 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053777.6, VCV000059906.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134456 | Submitted genomic | NC_000009.12:g.(?_ 127919476)_(130079 974_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 127,919,476 | 130,079,974 |
| nssv15134456 | Submitted genomic | NC_000009.11:g.(?_ 130681755)_(132842 253_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,681,755 | 132,842,253 |
| nssv15134456 | Submitted genomic | NC_000009.10:g.(?_ 129721576)_(131882 074_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 129,721,576 | 131,882,074 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134456 | GRCh37: NC_000009.11:g.(?_130681755)_(132842253_?)dup, GRCh38: NC_000009.12:g.(?_127919476)_(130079974_?)dup, NCBI36: NC_000009.10:g.(?_129721576)_(131882074_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053777.6, VCV000059906.1 | 3 |