nsv4728411
- 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:1,234,265
- Description:Single allele 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: 7326 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 7514 SVs from 115 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728411 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 21,537,975 | 22,772,239 |
| nsv4728411 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 22,006,109 | 23,241,448 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16255771 | deletion | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001260502.1, VCV000981171.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255771 | Remapped | Good | NC_000014.9:g.2153 7975_22772239del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 21,537,975 | 22,772,239 |
| nssv16255771 | Submitted genomic | NC_000014.8:g.2200 6109_23241448del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 22,006,109 | 23,241,448 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16255771 | GRCh37: NC_000014.8:g.22006109_23241448del | deletion | germline | not provided | Uncertain significance | ClinVar | RCV001260502.1, VCV000981171.1 |