nsv3916323
- 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:26,608,369
- Description:GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)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: 71203 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 71183 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 18319 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916323 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 68,686,088 | 95,294,456 |
| nsv3916323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,551,806 | 96,215,607 |
| nsv3916323 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 69,234,401 | 96,434,630 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146779 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143458.4, VCV000155391.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146779 | Submitted genomic | NC_000004.12:g.(?_ 68686088)_(9529445 6_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 68,686,088 | 95,294,456 |
| nssv15146779 | Submitted genomic | NC_000004.11:g.(?_ 69551806)_(9621560 7_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,551,806 | 96,215,607 |
| nssv15146779 | Submitted genomic | NC_000004.10:g.(?_ 69234401)_(9643463 0_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 69,234,401 | 96,434,630 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146779 | GRCh37: NC_000004.11:g.(?_69551806)_(96215607_?)dup, GRCh38: NC_000004.12:g.(?_68686088)_(95294456_?)dup, NCBI36: NC_000004.10:g.(?_69234401)_(96434630_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143458.4, VCV000155391.2 | 3 |