nsv4729090
- 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:492,170
- Description:GRCh37/hg19 12q13.13(chr12:53372321-53864490)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: 1864 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1864 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 52,978,537 | 53,470,706 |
| nsv4729090 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 53,372,321 | 53,864,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255450 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259614.1, VCV000980438.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255450 | Remapped | Perfect | NC_000012.12:g.(?_ 52978537)_(5347070 6_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 52,978,537 | 53,470,706 |
| nssv16255450 | Submitted genomic | NC_000012.11:g.(?_ 53372321)_(5386449 0_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 53,372,321 | 53,864,490 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255450 | GRCh37: NC_000012.11:g.(?_53372321)_(53864490_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001259614.1, VCV000980438.1 | 1 |