nsv6637051
- 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:352,772
- Description:GRCh37/hg19 2q11.1-11.2(chr2:96628608-96981369)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: 779 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 779 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637051 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 95,962,860 | 96,315,631 |
| nsv6637051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 96,628,608 | 96,981,369 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330923 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472784.1, VCV001807978.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330923 | Remapped | Good | NC_000002.12:g.(?_ 95962860)_(9631563 1_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 95,962,860 | 96,315,631 |
| nssv18330923 | Submitted genomic | NC_000002.11:g.(?_ 96628608)_(9698136 9_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 96,628,608 | 96,981,369 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330923 | GRCh37: NC_000002.11:g.(?_96628608)_(96981369_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472784.1, VCV001807978.1 | 3 |