nsv4674368
- 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:334,570
- Description:GRCh37/hg19 3p21.31(chr3:46656350-46990919)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: 1119 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1119 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674368 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 46,614,860 | 46,949,429 |
| nsv4674368 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 46,656,350 | 46,990,919 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206645 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005430.1, VCV000814440.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206645 | Remapped | Perfect | NC_000003.12:g.(?_ 46614860)_(4694942 9_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 46,614,860 | 46,949,429 |
| nssv16206645 | Submitted genomic | NC_000003.11:g.(?_ 46656350)_(4699091 9_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 46,656,350 | 46,990,919 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206645 | GRCh37: NC_000003.11:g.(?_46656350)_(46990919_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005430.1, VCV000814440.1 | 3 |