nsv4578270
- 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:2,309,078
- Description:GRCh37/hg19 14q11.2(chr14:21717093-24027220)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: 10821 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 11012 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578270 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,248,934 | 23,558,011 |
| nsv4578270 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 21,717,093 | 24,027,220 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16091748 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000856644.2, VCV000666446.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091748 | Remapped | Good | NC_000014.9:g.(?_2 1248934)_(23558011 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,248,934 | 23,558,011 |
| nssv16091748 | Submitted genomic | NC_000014.8:g.(?_2 1717093)_(24027220 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 21,717,093 | 24,027,220 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16091748 | GRCh37: NC_000014.8:g.(?_21717093)_(24027220_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000856644.2, VCV000666446.2 | 3 |