nsv4729176
- 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:4,492,254
- Description:GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)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: 16099 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 15977 SVs from 125 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729176 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 82,076 | 4,574,329 |
| nsv4729176 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 191,242 | 4,683,495 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16255209 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001259134.1, VCV000979958.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16255209 | Remapped | Perfect | NC_000012.12:g.(?_ 82076)_(4574329_?) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 82,076 | 4,574,329 |
| nssv16255209 | Submitted genomic | NC_000012.11:g.(?_ 191242)_(4683495_? )del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 191,242 | 4,683,495 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16255209 | GRCh37: NC_000012.11:g.(?_191242)_(4683495_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001259134.1, VCV000979958.1 | 1 |