nsv3914309
- 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:11,184,379
- Description:GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)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: 25372 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 25372 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 6717 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914309 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 82,569,098 | 93,753,476 |
| nsv3914309 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 83,278,815 | 94,463,194 |
| nsv3914309 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 83,335,534 | 94,519,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120615 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052192.4, VCV000058438.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120615 | Submitted genomic | NC_000006.12:g.(?_ 82569098)_(9375347 6_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 82,569,098 | 93,753,476 |
| nssv15120615 | Submitted genomic | NC_000006.11:g.(?_ 83278815)_(9446319 4_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 83,278,815 | 94,463,194 |
| nssv15120615 | Submitted genomic | NC_000006.10:g.(?_ 83335534)_(9451991 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 83,335,534 | 94,519,915 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120615 | GRCh37: NC_000006.11:g.(?_83278815)_(94463194_?)del, GRCh38: NC_000006.12:g.(?_82569098)_(93753476_?)del, NCBI36: NC_000006.10:g.(?_83335534)_(94519915_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052192.4, VCV000058438.1 | 1 |