nsv4673913
- 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:11,891,259
- Description:GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)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: 38976 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 38901 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673913 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 229,949,974 | 241,841,232 |
| nsv4673913 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 230,814,690 | 242,783,384 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208707 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001007519.1, VCV000816582.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208707 | Remapped | Good | NC_000002.12:g.(?_ 229949974)_(241841 232_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 229,949,974 | 241,841,232 |
| nssv16208707 | Submitted genomic | NC_000002.11:g.(?_ 230814690)_(242783 384_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 230,814,690 | 242,783,384 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208707 | GRCh37: NC_000002.11:g.(?_230814690)_(242783384_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001007519.1, VCV000816582.1 | 3 |