nsv3911012
- 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:10,216,955
- Description:GRCh38/hg38 8p23.3-23.1(chr8:241530-10458484)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: 48386 SVs from 141 studies. See in: genome view
Overlapping variant regions from other studies: 48033 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 13481 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 |
|---|---|---|---|---|---|---|---|
| nsv3911012 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 241,530 | 10,458,484 |
| nsv3911012 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 191,530 | 10,315,994 |
| nsv3911012 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 181,530 | 10,353,404 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148964 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142596.5, VCV000154529.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148964 | Submitted genomic | NC_000008.11:g.(?_ 241530)_(10458484_ ?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 241,530 | 10,458,484 |
| nssv15148964 | Submitted genomic | NC_000008.10:g.(?_ 191530)_(10315994_ ?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 191,530 | 10,315,994 |
| nssv15148964 | Submitted genomic | NC_000008.9:g.(?_1 81530)_(10353404_? )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 181,530 | 10,353,404 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148964 | GRCh37: NC_000008.10:g.(?_191530)_(10315994_?)del, GRCh38: NC_000008.11:g.(?_241530)_(10458484_?)del, NCBI36: NC_000008.9:g.(?_181530)_(10353404_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142596.5, VCV000154529.2 | 1 |