nsv3912043
- 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:4,550,511
- Description:
GRCh38/hg38 8p23.1(chr8:7411297-11961807)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: 16091 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 16091 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 5245 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 |
|---|---|---|---|---|---|---|---|
| nsv3912043 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 7,411,297 | 11,961,807 |
| nsv3912043 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 7,268,819 | 11,819,316 |
| nsv3912043 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 7,256,229 | 11,856,725 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161050 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053167.6, VCV000059334.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161050 | Submitted genomic | NC_000008.11:g.(?_ 7411297)_(11961807 _?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 7,411,297 | 11,961,807 |
| nssv15161050 | Submitted genomic | NC_000008.10:g.(?_ 7268819)_(11819316 _?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 7,268,819 | 11,819,316 |
| nssv15161050 | Submitted genomic | NC_000008.9:g.(?_7 256229)_(11856725_ ?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 7,256,229 | 11,856,725 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161050 | GRCh37: NC_000008.10:g.(?_7268819)_(11819316_?)del, GRCh38: NC_000008.11:g.(?_7411297)_(11961807_?)del, NCBI36: NC_000008.9:g.(?_7256229)_(11856725_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053167.6, VCV000059334.1 | 1 |