nsv4674226
- 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:11,073,531
- Description:GRCh37/hg19 2q22.3-24.1(chr2:147173792-158346266)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: 24458 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 24464 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674226 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 146,416,224 | 157,489,754 |
| nsv4674226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 147,173,792 | 158,346,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207836 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005326.1, VCV000814314.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207836 | Remapped | Good | NC_000002.12:g.(?_ 146416224)_(157489 754_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 146,416,224 | 157,489,754 |
| nssv16207836 | Submitted genomic | NC_000002.11:g.(?_ 147173792)_(158346 266_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 147,173,792 | 158,346,266 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207836 | GRCh37: NC_000002.11:g.(?_147173792)_(158346266_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005326.1, VCV000814314.1 | 1 |