nsv4456811
- 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:112,991,351
- Description:GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 287116 SVs from 146 studies. See in: genome view
Overlapping variant regions from other studies: 286819 SVs from 146 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456811 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 32,079,035 | 145,070,385 |
| nsv4456811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 31,936,551 | 146,295,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15777249 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848192.2, VCV000687493.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15777249 | Remapped | Good | NC_000008.11:g.(?_ 32079035)_(1450703 85_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 32,079,035 | 145,070,385 |
| nssv15777249 | Submitted genomic | NC_000008.10:g.(?_ 31936551)_(1462957 71_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 31,936,551 | 146,295,771 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15777249 | GRCh37: NC_000008.10:g.(?_31936551)_(146295771_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000848192.2, VCV000687493.2 | 3 |