nsv6112802
- 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:54,210,319
- Description:GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 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: 153729 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 153638 SVs from 139 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6112802 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 26,046,775 | 80,257,093 |
nsv6112802 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 23,626,739 | 78,014,976 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv17649868 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001537911.4, VCV001180529.4 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17649868 | Remapped | Good | NC_000018.10:g.260 46775_80257093dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 26,046,775 | 80,257,093 |
nssv17649868 | Submitted genomic | NC_000018.9:g.2362 6739_78014976dup | GRCh37 (hg19) | NC_000018.9 | Chr18 | 23,626,739 | 78,014,976 |
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 |
---|---|---|---|---|---|---|---|---|
nssv17649868 | GRCh37: NC_000018.9:g.23626739_78014976dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV001537911.4, VCV001180529.4 | 3 |