nsv3899639
- 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:88,328,111
- Description:GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)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: 261967 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 259802 SVs from 150 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899639 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 106,879,456 |
| nsv3899639 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 19,327,823 | 107,287,663 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15162476 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000738414.2, VCV000601778.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15162476 | Remapped | Good | NC_000014.9:g.(?_1 8551346)_(10687945 6_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 18,551,346 | 106,879,456 |
| nssv15162476 | Submitted genomic | NC_000014.8:g.(?_1 9327823)_(10728766 3_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 19,327,823 | 107,287,663 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15162476 | GRCh37: NC_000014.8:g.(?_19327823)_(107287663_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000738414.2, VCV000601778.2 | 3 |