nsv6636914
- 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:654,682
- Description:GRCh37/hg19 2q14.2(chr2:120729215-121383896)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: 1483 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1483 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636914 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 119,971,639 | 120,626,320 |
| nsv6636914 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 120,729,215 | 121,383,896 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329867 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473599.1, VCV001808282.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329867 | Remapped | Perfect | NC_000002.12:g.(?_ 119971639)_(120626 320_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 119,971,639 | 120,626,320 |
| nssv18329867 | Submitted genomic | NC_000002.11:g.(?_ 120729215)_(121383 896_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 120,729,215 | 121,383,896 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329867 | GRCh37: NC_000002.11:g.(?_120729215)_(121383896_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473599.1, VCV001808282.1 | 3 |