nsv3912856
- 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:4,874,889
- Description:GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)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: 12194 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 12194 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2858 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912856 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 41,638,061 | 46,512,949 |
| nsv3912856 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 41,605,799 | 46,480,686 |
| nsv3912856 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 41,713,777 | 46,588,645 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161037 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052182.4, VCV000058428.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161037 | Submitted genomic | NC_000006.12:g.(?_ 41638061)_(4651294 9_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 41,638,061 | 46,512,949 |
| nssv15161037 | Submitted genomic | NC_000006.11:g.(?_ 41605799)_(4648068 6_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 41,605,799 | 46,480,686 |
| nssv15161037 | Submitted genomic | NC_000006.10:g.(?_ 41713777)_(4658864 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 41,713,777 | 46,588,645 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161037 | GRCh37: NC_000006.11:g.(?_41605799)_(46480686_?)del, GRCh38: NC_000006.12:g.(?_41638061)_(46512949_?)del, NCBI36: NC_000006.10:g.(?_41713777)_(46588645_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052182.4, VCV000058428.1 | 1 |