nsv3914565
- 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:4,841,406
- Description:GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1 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: 13519 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 13521 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 3135 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 |
|---|---|---|---|---|---|---|---|
| nsv3914565 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 154,178,964 | 159,020,369 |
| nsv3914565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 154,500,098 | 159,441,401 |
| nsv3914565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 154,541,790 | 159,361,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147276 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000134896.5, VCV000145547.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147276 | Submitted genomic | NC_000006.12:g.(?_ 154178964)_(159020 369_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 154,178,964 | 159,020,369 |
| nssv15147276 | Submitted genomic | NC_000006.11:g.(?_ 154500098)_(159441 401_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 154,500,098 | 159,441,401 |
| nssv15147276 | Submitted genomic | NC_000006.10:g.(?_ 154541790)_(159361 389_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 154,541,790 | 159,361,389 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147276 | GRCh37: NC_000006.11:g.(?_154500098)_(159441401_?)del, GRCh38: NC_000006.12:g.(?_154178964)_(159020369_?)del, NCBI36: NC_000006.10:g.(?_154541790)_(159361389_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000134896.5, VCV000145547.2 | 1 |