nsv4349898
- 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:2,109,968
- Description:GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855) 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: 6030 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 6030 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349898 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 99,271,551 | 101,381,518 |
| nsv4349898 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 99,737,888 | 101,847,855 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605986 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000767823.1, VCV000625815.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605986 | Remapped | Perfect | NC_000014.9:g.(?_9 9271551)_(10138151 8_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 99,271,551 | 101,381,518 |
| nssv15605986 | Submitted genomic | NC_000014.8:g.(?_9 9737888)_(10184785 5_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 99,737,888 | 101,847,855 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605986 | GRCh37: NC_000014.8:g.(?_99737888)_(101847855_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000767823.1, VCV000625815.1 |