nsv4728809
- 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:7,151,708
- Description:GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)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: 18091 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 18092 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4728809 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 44,913,493 | 52,065,200 |
| nsv4728809 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 45,487,628 | 52,639,336 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254878 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258545.1, VCV000979369.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254878 | Remapped | Perfect | NC_000013.11:g.(?_ 44913493)_(5206520 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 44,913,493 | 52,065,200 |
| nssv16254878 | Submitted genomic | NC_000013.10:g.(?_ 45487628)_(5263933 6_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 45,487,628 | 52,639,336 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254878 | GRCh37: NC_000013.10:g.(?_45487628)_(52639336_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV001258545.1, VCV000979369.1 | 3 |