nsv3905447
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:133,136,696
- Description:
See descriptions for individual calls in download files
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 366086 SVs from 145 studies. See in: genome view
Overlapping variant regions from other studies: 364705 SVs from 145 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3905447 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 64,621 | 133,201,316 |
nsv3905447 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 173,787 | 133,777,902 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15161414 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510482.2, VCV000441983.2 | 3 |
nssv15161422 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511643.2, VCV000441984.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15161414 | Remapped | Good | NC_000012.12:g.(?_ 64621)_(133201316_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 64,621 | 133,201,316 |
nssv15161422 | Remapped | Good | NC_000012.12:g.(?_ 64621)_(133201316_ ?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 64,621 | 133,201,316 |
nssv15161414 | Submitted genomic | NC_000012.11:g.(?_ 173787)_(133777902 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 173,787 | 133,777,902 | ||
nssv15161422 | Submitted genomic | NC_000012.11:g.(?_ 173787)_(133777902 _?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 173,787 | 133,777,902 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15161414 | GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dup | copy number gain | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000510482.2, VCV000441983.2 | 3 |
nssv15161422 | GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000511643.2, VCV000441984.2 |