nsv3897530
- 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:16,405
- Description:GRCh37/hg19 14q32.2(chr14:100701417-100717821)x1 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: 169 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 41 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3897530 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 100,235,080 | 100,251,484 |
| nsv3897530 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 100,701,417 | 100,717,821 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15172434 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000751113.2, VCV000614477.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15172434 | Remapped | Perfect | NC_000014.9:g.(?_1 00235080)_(1002514 84_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 100,235,080 | 100,251,484 |
| nssv15172434 | Submitted genomic | NC_000014.8:g.(?_1 00701417)_(1007178 21_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 100,701,417 | 100,717,821 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15172434 | GRCh37: NC_000014.8:g.(?_100701417)_(100717821_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000751113.2, VCV000614477.2 | 1 |