nsv4347762
- 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:8,732,312
- Description:GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) 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: 22108 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 22091 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4347762 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 45,112,278 | 53,844,589 |
| nsv4347762 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 45,153,770 | 53,878,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606070 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767704.1, VCV000625696.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606070 | Remapped | Good | NC_000003.12:g.(?_ 45112278)_(5384458 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 45,112,278 | 53,844,589 |
| nssv15606070 | Submitted genomic | NC_000003.11:g.(?_ 45153770)_(5387861 6_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 45,153,770 | 53,878,616 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606070 | GRCh37: NC_000003.11:g.(?_45153770)_(53878616_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767704.1, VCV000625696.1 |