nsv3876149
- 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:268,778
- Description:GRCh37/hg19 3p11.1(chr3:89417287-89686064)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: 864 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 864 SVs from 87 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3876149 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 89,368,137 | 89,636,914 |
nsv3876149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 89,417,287 | 89,686,064 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15163821 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000742612.2, VCV000605976.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15163821 | Remapped | Perfect | NC_000003.12:g.(?_ 89368137)_(8963691 4_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 89,368,137 | 89,636,914 |
nssv15163821 | Submitted genomic | NC_000003.11:g.(?_ 89417287)_(8968606 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 89,417,287 | 89,686,064 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15163821 | GRCh37: NC_000003.11:g.(?_89417287)_(89686064_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000742612.2, VCV000605976.2 | 3 |