nsv3893757
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:144,846,452
- Description:GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)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: 401182 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 400543 SVs from 152 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893757 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 208,991 | 145,055,442 |
| nsv3893757 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 158,991 | 146,280,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161846 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000447507.3, VCV000394884.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161846 | Remapped | Good | NC_000008.11:g.(?_ 208991)_(145055442 _?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 208,991 | 145,055,442 |
| nssv15161846 | Submitted genomic | NC_000008.10:g.(?_ 158991)_(146280828 _?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 158,991 | 146,280,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161846 | GRCh37: NC_000008.10:g.(?_158991)_(146280828_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000447507.3, VCV000394884.3 | 3 |