nsv3914702
- 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:38,159,064
- Description:GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)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: 94525 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 94290 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 24175 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914702 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 68,420,430 | 106,579,493 |
| nsv3914702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 71,130,848 | 109,341,774 |
| nsv3914702 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 70,225,166 | 108,381,595 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147345 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136788.6, VCV000147624.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147345 | Submitted genomic | NC_000009.12:g.(?_ 68420430)_(1065794 93_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 68,420,430 | 106,579,493 |
| nssv15147345 | Submitted genomic | NC_000009.11:g.(?_ 71130848)_(1093417 74_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 71,130,848 | 109,341,774 |
| nssv15147345 | Submitted genomic | NC_000009.10:g.(?_ 70225166)_(1083815 95_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 70,225,166 | 108,381,595 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147345 | GRCh37: NC_000009.11:g.(?_71130848)_(109341774_?)dup, GRCh38: NC_000009.12:g.(?_68420430)_(106579493_?)dup, NCBI36: NC_000009.10:g.(?_70225166)_(108381595_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136788.6, VCV000147624.2 | 3 |