nsv4349253
- 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:7,261,246
- Description:GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) 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: 31336 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 31275 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349253 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 82,727,728 | 89,988,973 |
| nsv4349253 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 82,761,333 | 90,055,381 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606050 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767619.1, VCV000625611.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606050 | Remapped | Good | NC_000016.10:g.(?_ 82727728)_(8998897 3_?)dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 82,727,728 | 89,988,973 |
| nssv15606050 | Submitted genomic | NC_000016.9:g.(?_8 2761333)_(90055381 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 82,761,333 | 90,055,381 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606050 | GRCh37: NC_000016.9:g.(?_82761333)_(90055381_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767619.1, VCV000625611.1 |