nsv4674762
- 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:893,662
- Description:GRCh37/hg19 3q11.2-12.1(chr3:97606054-98499715)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: 2614 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2614 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674762 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 97,887,210 | 98,780,871 |
| nsv4674762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 97,606,054 | 98,499,715 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206660 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005456.1, VCV000814466.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206660 | Remapped | Perfect | NC_000003.12:g.(?_ 97887210)_(9878087 1_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 97,887,210 | 98,780,871 |
| nssv16206660 | Submitted genomic | NC_000003.11:g.(?_ 97606054)_(9849971 5_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 97,606,054 | 98,499,715 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206660 | GRCh37: NC_000003.11:g.(?_97606054)_(98499715_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005456.1, VCV000814466.1 | 3 |