nsv4456871
- 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:23,438,393
- Description:GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)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: 53821 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 53743 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456871 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,698,138 | 63,136,530 |
| nsv4456871 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 39,555,657 | 64,049,089 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774700 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846266.2, VCV000685558.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774700 | Remapped | Good | NC_000008.11:g.(?_ 39698138)_(6313653 0_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,698,138 | 63,136,530 |
| nssv15774700 | Submitted genomic | NC_000008.10:g.(?_ 39555657)_(6404908 9_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 39,555,657 | 64,049,089 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774700 | GRCh37: NC_000008.10:g.(?_39555657)_(64049089_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000846266.2, VCV000685558.2 | 3 |