nsv3904547
- 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:367,081
- Description:GRCh37/hg19 12p12.1(chr12:23899592-24266672)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1158 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1158 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3904547 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 23,746,658 | 24,113,738 |
nsv3904547 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 23,899,592 | 24,266,672 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15150661 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511638.2, VCV000442608.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15150661 | Remapped | Perfect | NC_000012.12:g.(?_ 23746658)_(2411373 8_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 23,746,658 | 24,113,738 |
nssv15150661 | Submitted genomic | NC_000012.11:g.(?_ 23899592)_(2426667 2_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 23,899,592 | 24,266,672 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15150661 | GRCh37: NC_000012.11:g.(?_23899592)_(24266672_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511638.2, VCV000442608.2 | 1 |