nsv4349901
- 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:9,936,677
- Description:GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) 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: 34254 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 34445 SVs from 138 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4349901 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,324,205 | 28,260,881 |
| nsv4349901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,100,682 | 28,730,087 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606090 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767822.1, VCV000625814.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606090 | Remapped | Good | NC_000014.9:g.(?_1 8324205)_(28260881 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,324,205 | 28,260,881 |
| nssv15606090 | Submitted genomic | NC_000014.8:g.(?_1 9100682)_(28730087 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,100,682 | 28,730,087 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606090 | GRCh37: NC_000014.8:g.(?_19100682)_(28730087_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767822.1, VCV000625814.1 |