nsv4350818
- 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:14,768,437
- Description:GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) 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: 51020 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 50911 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350818 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 80,050 | 14,848,486 |
| nsv4350818 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 189,216 | 15,001,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605981 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767817.1, VCV000625809.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605981 | Remapped | Good | NC_000012.12:g.(?_ 80050)_(14848486_? )dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 80,050 | 14,848,486 |
| nssv15605981 | Submitted genomic | NC_000012.11:g.(?_ 189216)_(15001420_ ?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 189,216 | 15,001,420 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605981 | GRCh37: NC_000012.11:g.(?_189216)_(15001420_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767817.1, VCV000625809.1 |