nsv3916930
- 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:137,303
- Description:GRCh38/hg38 6q21(chr6:109612069-109749371)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: 362 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 97 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916930 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 109,612,069 | 109,749,371 |
| nsv3916930 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 109,933,272 | 110,070,574 |
| nsv3916930 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 110,039,965 | 110,177,267 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135200 | copy number loss | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000137397.5, VCV000148323.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135200 | Submitted genomic | NC_000006.12:g.(?_ 109612069)_(109749 371_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 109,612,069 | 109,749,371 |
| nssv15135200 | Submitted genomic | NC_000006.11:g.(?_ 109933272)_(110070 574_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 109,933,272 | 110,070,574 |
| nssv15135200 | Submitted genomic | NC_000006.10:g.(?_ 110039965)_(110177 267_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 110,039,965 | 110,177,267 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135200 | GRCh37: NC_000006.11:g.(?_109933272)_(110070574_?)del, GRCh38: NC_000006.12:g.(?_109612069)_(109749371_?)del, NCBI36: NC_000006.10:g.(?_110039965)_(110177267_?)del | copy number loss | not provided | See cases | Likely pathogenic | ClinVar | RCV000137397.5, VCV000148323.2 | 1 |