nsv6636359
- 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:294,927
- Description:GRCh37/hg19 2q21.1(chr2:131974176-132269102)x1 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: 1210 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1210 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636359 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 131,216,603 | 131,511,529 |
| nsv6636359 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 131,974,176 | 132,269,102 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330546 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002474806.1, VCV001808961.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330546 | Remapped | Perfect | NC_000002.12:g.(?_ 131216603)_(131511 529_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 131,216,603 | 131,511,529 |
| nssv18330546 | Submitted genomic | NC_000002.11:g.(?_ 131974176)_(132269 102_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 131,974,176 | 132,269,102 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330546 | GRCh37: NC_000002.11:g.(?_131974176)_(132269102_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002474806.1, VCV001808961.1 | 1 |