nsv3871533
- 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:181,241,015
- Description:GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)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: 472527 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 472169 SVs from 152 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3871533 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 25,329 | 181,266,343 |
| nsv3871533 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 25,328 | 180,693,344 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15164765 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000744323.2, VCV000607687.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15164765 | Remapped | Good | NC_000005.10:g.(?_ 25329)_(181266343_ ?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 25,329 | 181,266,343 |
| nssv15164765 | Submitted genomic | NC_000005.9:g.(?_2 5328)_(180693344_? )dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 25,328 | 180,693,344 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15164765 | GRCh37: NC_000005.9:g.(?_25328)_(180693344_?)dup | copy number gain | unknown | not provided | Pathogenic | ClinVar | RCV000744323.2, VCV000607687.2 | 3 |