nsv6313768
- 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:1,930,987
- Description:GRCh37/hg19 2q35(chr2:218210665-220141650) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4985 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 4985 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313768 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 217,345,942 | 219,276,928 |
| nsv6313768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 218,210,665 | 220,141,650 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969812 | copy number gain | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002053284.3, VCV001526952.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969812 | Remapped | Perfect | NC_000002.12:g.(?_ 217345942)_(219276 928_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 217,345,942 | 219,276,928 |
| nssv17969812 | Submitted genomic | NC_000002.11:g.(?_ 218210665)_(220141 650_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 218,210,665 | 220,141,650 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969812 | GRCh37: NC_000002.11:g.(?_218210665)_(220141650_?)dup | copy number gain | germline | not specified | Uncertain significance | ClinVar | RCV002053284.3, VCV001526952.3 |