nsv3919282
- 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:144,813,105
- Description:GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 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: 401077 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 400438 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 102902 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919282 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 241,530 | 145,054,634 |
| nsv3919282 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 191,530 | 146,280,020 |
| nsv3919282 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 181,530 | 146,250,824 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161748 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053602.11, VCV000059738.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161748 | Submitted genomic | NC_000008.11:g.(?_ 241530)_(145054634 _?)dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 241,530 | 145,054,634 |
| nssv15161748 | Submitted genomic | NC_000008.10:g.(?_ 191530)_(146280020 _?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 191,530 | 146,280,020 |
| nssv15161748 | Submitted genomic | NC_000008.9:g.(?_1 81530)_(146250824_ ?)dup | NCBI36 (hg18) | NC_000008.9 | Chr8 | 181,530 | 146,250,824 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161748 | GRCh37: NC_000008.10:g.(?_191530)_(146280020_?)dup, GRCh38: NC_000008.11:g.(?_241530)_(145054634_?)dup, NCBI36: NC_000008.9:g.(?_181530)_(146250824_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000053602.11, VCV000059738.2 | 3 |