nsv3886411
- 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:422,158
- Description:GRCh37/hg19 3q13.13(chr3:108597544-109019701)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: 1310 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 1310 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3886411 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 108,878,697 | 109,300,854 |
nsv3886411 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 108,597,544 | 109,019,701 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15153500 | copy number gain | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV000682292.1, VCV000562803.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15153500 | Remapped | Perfect | NC_000003.12:g.(?_ 108878697)_(109300 854_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 108,878,697 | 109,300,854 |
nssv15153500 | Submitted genomic | NC_000003.11:g.(?_ 108597544)_(109019 701_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 108,597,544 | 109,019,701 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15153500 | GRCh37: NC_000003.11:g.(?_108597544)_(109019701_?)dup | copy number gain | germline | not provided | Likely benign | ClinVar | RCV000682292.1, VCV000562803.1 | 3 |