nsv6314726
- 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:105,765,295
- Description:Single allele AND not provided
- Publication(s):Halgren et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 254523 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 253910 SVs from 150 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6314726 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 40,379,902 | 40,379,902 | 146,145,196 | 146,145,196 |
| nsv6314726 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 40,607,042 | 40,608,411 | 146,900,718 | 146,902,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15155128 | deletion | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000714264.1, VCV000524189.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15155128 | Remapped | Good | NC_000002.12:g.(40 379902_40379902)_( 146145196_14614519 6)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 40,379,902 | 40,379,902 | 146,145,196 | 146,145,196 |
| nssv15155128 | Submitted genomic | NC_000002.11:g.(40 607042_40608411)_( 146900718_14690276 4)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 40,607,042 | 40,608,411 | 146,900,718 | 146,902,764 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15155128 | GRCh37: NC_000002.11:g.(40607042_40608411)_(146900718_146902764)del | deletion | de novo | not provided | Likely pathogenic | ClinVar | RCV000714264.1, VCV000524189.1 |