nsv3898512
- 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:33,593,197
- Description:GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 110387 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 108050 SVs from 144 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3898512 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 73,284,033 | 106,877,229 |
| nsv3898512 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 73,750,741 | 107,285,437 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161689 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000512497.2, VCV000442718.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161689 | Remapped | Good | NC_000014.9:g.(?_7 3284033)_(10687722 9_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 73,284,033 | 106,877,229 |
| nssv15161689 | Submitted genomic | NC_000014.8:g.(?_7 3750741)_(10728543 7_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 73,750,741 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161689 | GRCh37: NC_000014.8:g.(?_73750741)_(107285437_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000512497.2, VCV000442718.2 | 3 |