nsv4676182
- 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:1,087,883
- Description:GRCh37/hg19 20p12.3(chr20:7052456-8140338)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: 3068 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 3068 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4676182 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 7,071,809 | 8,159,691 |
nsv4676182 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 7,052,456 | 8,140,338 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16207415 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007077.2, VCV000816111.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16207415 | Remapped | Perfect | NC_000020.11:g.(?_ 7071809)_(8159691_ ?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 7,071,809 | 8,159,691 |
nssv16207415 | Submitted genomic | NC_000020.10:g.(?_ 7052456)_(8140338_ ?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 7,052,456 | 8,140,338 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16207415 | GRCh37: NC_000020.10:g.(?_7052456)_(8140338_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001007077.2, VCV000816111.2 | 3 |