nsv4676032
- 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:5,710,885
- Description:GRCh37/hg19 14q13.3-21.1(chr14:36830396-42541277)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: 16459 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 16460 SVs from 118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676032 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 36,361,190 | 42,072,074 |
| nsv4676032 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 36,830,396 | 42,541,277 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208381 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006616.1, VCV000815639.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208381 | Remapped | Perfect | NC_000014.9:g.(?_3 6361190)_(42072074 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 36,361,190 | 42,072,074 |
| nssv16208381 | Submitted genomic | NC_000014.8:g.(?_3 6830396)_(42541277 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 36,830,396 | 42,541,277 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208381 | GRCh37: NC_000014.8:g.(?_36830396)_(42541277_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001006616.1, VCV000815639.1 | 1 |