nsv3919897
- 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:10,654,775
- Description:GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)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: 26585 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 26440 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 6859 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919897 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 103,279,465 | 113,934,239 |
| nsv3919897 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 103,727,340 | 114,255,403 |
| nsv3919897 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 103,834,033 | 114,362,096 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148198 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142287.4, VCV000154178.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148198 | Submitted genomic | NC_000006.12:g.(?_ 103279465)_(113934 239_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 103,279,465 | 113,934,239 |
| nssv15148198 | Submitted genomic | NC_000006.11:g.(?_ 103727340)_(114255 403_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 103,727,340 | 114,255,403 |
| nssv15148198 | Submitted genomic | NC_000006.10:g.(?_ 103834033)_(114362 096_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 103,834,033 | 114,362,096 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148198 | GRCh37: NC_000006.11:g.(?_103727340)_(114255403_?)del, GRCh38: NC_000006.12:g.(?_103279465)_(113934239_?)del, NCBI36: NC_000006.10:g.(?_103834033)_(114362096_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142287.4, VCV000154178.2 | 1 |