nsv6308977
- 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:544,012
- Description:NC_000010.10:g.(?_111860412)_(112404423_?)dup 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: 1291 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1291 SVs from 75 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6308977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 110,100,654 | 110,644,665 |
nsv6308977 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 111,860,412 | 112,404,423 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17973196 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002004916.3, VCV001450697.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17973196 | Remapped | Perfect | NC_000010.11:g.(?_ 110100654)_(110644 665_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 110,100,654 | 110,644,665 |
nssv17973196 | Submitted genomic | NC_000010.10:g.(?_ 111860412)_(112404 423_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 111,860,412 | 112,404,423 |
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 |
---|---|---|---|---|---|---|---|
nssv17973196 | GRCh37: NC_000010.10:g.(?_111860412)_(112404423_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV002004916.3, VCV001450697.3 |