nsv3874797
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:4,153
- Description:NM_021994.3(ZNF277):c.466-2289_557+1772del AND not provided
- Publication(s):Ceroni et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 147 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3874797 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 112,315,893 | 112,320,045 |
| nsv3874797 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 111,955,948 | 111,960,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15148273 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000144855.3, VCV000157510.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15148273 | Submitted genomic | NC_000007.14:g.112 315893_112320045de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 112,315,893 | 112,320,045 |
| nssv15148273 | Submitted genomic | NC_000007.13:g.111 955948_111960100de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,955,948 | 111,960,100 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15148273 | GRCh37: NC_000007.13:g.111955948_111960100del, GRCh38: NC_000007.14:g.112315893_112320045del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV000144855.3, VCV000157510.1 |