nsv3899404
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:25,735,346
- Description:GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 61036 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 61037 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 16422 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899404 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 176,304,445 | 202,039,790 |
| nsv3899404 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 177,169,173 | 202,904,513 |
| nsv3899404 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 176,877,419 | 202,612,758 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146426 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052558.4, VCV000058770.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146426 | Submitted genomic | NC_000002.12:g.(?_ 176304445)_(202039 790_?)del | GRCh38 (hg38) | NC_000002.12 | Chr2 | 176,304,445 | 202,039,790 |
| nssv15146426 | Submitted genomic | NC_000002.11:g.(?_ 177169173)_(202904 513_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 177,169,173 | 202,904,513 |
| nssv15146426 | Submitted genomic | NC_000002.10:g.(?_ 176877419)_(202612 758_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 176,877,419 | 202,612,758 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146426 | GRCh37: NC_000002.11:g.(?_177169173)_(202904513_?)del, GRCh38: NC_000002.12:g.(?_176304445)_(202039790_?)del, NCBI36: NC_000002.10:g.(?_176877419)_(202612758_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052558.4, VCV000058770.1 | 1 |