nsv6637462
- 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:15,465,576
- Description:GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)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: 40638 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 40642 SVs from 127 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637462 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 81,127,364 | 96,592,939 |
| nsv6637462 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 81,593,708 | 97,059,276 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329607 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV002472541.1, VCV001807735.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329607 | Remapped | Perfect | NC_000014.9:g.(?_8 1127364)_(96592939 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 81,127,364 | 96,592,939 |
| nssv18329607 | Submitted genomic | NC_000014.8:g.(?_8 1593708)_(97059276 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 81,593,708 | 97,059,276 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329607 | GRCh37: NC_000014.8:g.(?_81593708)_(97059276_?)dup | copy number gain | unknown | not provided | Likely pathogenic | ClinVar | RCV002472541.1, VCV001807735.1 | 3 |