nsv4729071
- 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:15,008,055
- Description:GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)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: 38710 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 38731 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729071 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 107,409,345 | 122,417,399 |
| nsv4729071 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 108,421,573 | 123,429,638 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255145 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259025.1, VCV000979849.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255145 | Remapped | Perfect | NC_000008.11:g.(?_ 107409345)_(122417 399_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 107,409,345 | 122,417,399 |
| nssv16255145 | Submitted genomic | NC_000008.10:g.(?_ 108421573)_(123429 638_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 108,421,573 | 123,429,638 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255145 | GRCh37: NC_000008.10:g.(?_108421573)_(123429638_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001259025.1, VCV000979849.1 | 3 |