nsv3914025
- 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:8,457,342
- Description:GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)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: 19314 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 19317 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4653 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914025 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 107,370,141 | 115,827,482 |
| nsv3914025 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 107,691,345 | 116,148,646 |
| nsv3914025 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 107,798,038 | 116,255,339 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147394 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138006.4, VCV000148944.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147394 | Submitted genomic | NC_000006.12:g.(?_ 107370141)_(115827 482_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 107,370,141 | 115,827,482 |
| nssv15147394 | Submitted genomic | NC_000006.11:g.(?_ 107691345)_(116148 646_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 107,691,345 | 116,148,646 |
| nssv15147394 | Submitted genomic | NC_000006.10:g.(?_ 107798038)_(116255 339_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 107,798,038 | 116,255,339 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147394 | GRCh37: NC_000006.11:g.(?_107691345)_(116148646_?)del, GRCh38: NC_000006.12:g.(?_107370141)_(115827482_?)del, NCBI36: NC_000006.10:g.(?_107798038)_(116255339_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000138006.4, VCV000148944.2 | 1 |