nsv4455156
- 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:7,549,337
- Description:GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)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: 40894 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 38560 SVs from 133 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4455156 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 99,327,893 | 106,877,229 |
nsv4455156 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 99,794,230 | 107,285,437 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15777234 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000849272.2, VCV000688581.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15777234 | Remapped | Good | NC_000014.9:g.(?_9 9327893)_(10687722 9_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 99,327,893 | 106,877,229 |
nssv15777234 | Submitted genomic | NC_000014.8:g.(?_9 9794230)_(10728543 7_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 99,794,230 | 107,285,437 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15777234 | GRCh37: NC_000014.8:g.(?_99794230)_(107285437_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000849272.2, VCV000688581.2 | 3 |