nsv4675943
- 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:24,316,315
- Description:GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)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: 73695 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 73890 SVs from 139 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675943 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 20,043,513 | 44,359,827 |
| nsv4675943 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,511,672 | 44,829,030 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207193 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001006605.1, VCV000815628.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207193 | Remapped | Good | NC_000014.9:g.(?_2 0043513)_(44359827 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 20,043,513 | 44,359,827 |
| nssv16207193 | Submitted genomic | NC_000014.8:g.(?_2 0511672)_(44829030 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,511,672 | 44,829,030 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207193 | GRCh37: NC_000014.8:g.(?_20511672)_(44829030_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001006605.1, VCV000815628.1 | 3 |