nsv3918439
- 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:17,106,344
- Description:GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)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: 59187 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 58922 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 15254 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918439 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 121,073,102 | 138,179,445 |
| nsv3918439 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 123,835,380 | 141,073,897 |
| nsv3918439 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 122,875,201 | 140,193,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148019 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134920.8, VCV000145579.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148019 | Submitted genomic | NC_000009.12:g.(?_ 121073102)_(138179 445_?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 121,073,102 | 138,179,445 |
| nssv15148019 | Submitted genomic | NC_000009.11:g.(?_ 123835380)_(141073 897_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 123,835,380 | 141,073,897 |
| nssv15148019 | Submitted genomic | NC_000009.10:g.(?_ 122875201)_(140193 718_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 122,875,201 | 140,193,718 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148019 | GRCh37: NC_000009.11:g.(?_123835380)_(141073897_?)dup, GRCh38: NC_000009.12:g.(?_121073102)_(138179445_?)dup, NCBI36: NC_000009.10:g.(?_122875201)_(140193718_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134920.8, VCV000145579.2 | 3 |