nsv4455692
- 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:6,868,122
- Description:GRCh37/hg19 12q24.31-24.32(chr12:122169403-129084163)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: 22067 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 22066 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455692 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 121,731,497 | 128,599,618 |
| nsv4455692 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 122,169,403 | 129,084,163 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15772818 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000848395.2, VCV000687704.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15772818 | Remapped | Good | NC_000012.12:g.(?_ 121731497)_(128599 618_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 121,731,497 | 128,599,618 |
| nssv15772818 | Submitted genomic | NC_000012.11:g.(?_ 122169403)_(129084 163_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 122,169,403 | 129,084,163 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15772818 | GRCh37: NC_000012.11:g.(?_122169403)_(129084163_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000848395.2, VCV000687704.2 | 1 |