nsv4675638
- 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:218,790
- Description:GRCh37/hg19 15q26.3(chr15:101163927-101382716)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: 961 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 961 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675638 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 100,623,722 | 100,842,511 |
| nsv4675638 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 101,163,927 | 101,382,716 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207246 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001006739.1, VCV000815764.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207246 | Remapped | Perfect | NC_000015.10:g.(?_ 100623722)_(100842 511_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 100,623,722 | 100,842,511 |
| nssv16207246 | Submitted genomic | NC_000015.9:g.(?_1 01163927)_(1013827 16_?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 101,163,927 | 101,382,716 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207246 | GRCh37: NC_000015.9:g.(?_101163927)_(101382716_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001006739.1, VCV000815764.1 | 3 |