nsv4729605
- 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:643,476
- Description:GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)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: 1629 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1629 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729605 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 66,832,140 | 67,475,615 |
nsv4729605 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 67,744,375 | 68,387,850 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254772 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258413.1, VCV000979237.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254772 | Remapped | Perfect | NC_000008.11:g.(?_ 66832140)_(6747561 5_?)dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 66,832,140 | 67,475,615 |
nssv16254772 | Submitted genomic | NC_000008.10:g.(?_ 67744375)_(6838785 0_?)dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 67,744,375 | 68,387,850 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254772 | GRCh37: NC_000008.10:g.(?_67744375)_(68387850_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001258413.1, VCV000979237.1 | 3 |