nsv3888061
- 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:11,301
- Description:GRCh37/hg19 5q31.1(chr5:132150484-132161784)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: 91 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 29 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3888061 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 132,814,792 | 132,826,092 |
nsv3888061 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 132,150,484 | 132,161,784 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15167439 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000745177.2, VCV000608541.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15167439 | Remapped | Perfect | NC_000005.10:g.(?_ 132814792)_(132826 092_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 132,814,792 | 132,826,092 |
nssv15167439 | Submitted genomic | NC_000005.9:g.(?_1 32150484)_(1321617 84_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 132,150,484 | 132,161,784 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15167439 | GRCh37: NC_000005.9:g.(?_132150484)_(132161784_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000745177.2, VCV000608541.2 | 3 |