nsv6291583
- 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:7,710,314
- Description:GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)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: 18141 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 18118 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291583 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 103,836,684 | 111,546,997 |
| nsv6291583 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 104,230,462 | 111,984,801 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957131 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834231.1, VCV001340640.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957131 | Remapped | Good | NC_000012.12:g.(?_ 103836684)_(111546 997_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 103,836,684 | 111,546,997 |
| nssv17957131 | Submitted genomic | NC_000012.11:g.(?_ 104230462)_(111984 801_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 104,230,462 | 111,984,801 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957131 | GRCh37: NC_000012.11:g.(?_104230462)_(111984801_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834231.1, VCV001340640.1 | 1 |