nsv3919257
- 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:137,975,253
- Description:GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) 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: 326505 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 326527 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 82609 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919257 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 204,193 | 138,179,445 |
| nsv3919257 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 204,193 | 141,073,897 |
| nsv3919257 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 194,193 | 140,193,718 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15147961 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133791.6, VCV000144309.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147961 | Submitted genomic | NC_000009.12:g.(?_ 204193)_(138179445 _?)dup | GRCh38 (hg38) | NC_000009.12 | Chr9 | 204,193 | 138,179,445 |
| nssv15147961 | Submitted genomic | NC_000009.11:g.(?_ 204193)_(141073897 _?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 204,193 | 141,073,897 |
| nssv15147961 | Submitted genomic | NC_000009.10:g.(?_ 194193)_(140193718 _?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 194,193 | 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 |
|---|---|---|---|---|---|---|---|
| nssv15147961 | GRCh37: NC_000009.11:g.(?_204193)_(141073897_?)dup, GRCh38: NC_000009.12:g.(?_204193)_(138179445_?)dup, NCBI36: NC_000009.10:g.(?_194193)_(140193718_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000133791.6, VCV000144309.2 |