nsv3924705
- 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:3,376,847
- Description:GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)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: 9039 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 9039 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2253 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924705 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 173,237,772 | 176,614,618 |
| nsv3924705 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 172,664,775 | 176,041,619 |
| nsv3924705 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 172,597,381 | 175,974,225 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137837 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142647.5, VCV000154580.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137837 | Submitted genomic | NC_000005.10:g.(?_ 173237772)_(176614 618_?)dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 173,237,772 | 176,614,618 |
| nssv15137837 | Submitted genomic | NC_000005.9:g.(?_1 72664775)_(1760416 19_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 172,664,775 | 176,041,619 |
| nssv15137837 | Submitted genomic | NC_000005.8:g.(?_1 72597381)_(1759742 25_?)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 172,597,381 | 175,974,225 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137837 | GRCh37: NC_000005.9:g.(?_172664775)_(176041619_?)dup, GRCh38: NC_000005.10:g.(?_173237772)_(176614618_?)dup, NCBI36: NC_000005.8:g.(?_172597381)_(175974225_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142647.5, VCV000154580.2 | 3 |