nsv4350559
- 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:5,700,588
- Description:GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) 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: 22321 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 22322 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 175,563,349 | 181,263,936 |
| nsv4350559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 174,990,352 | 180,690,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606073 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767711.1, VCV000625703.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606073 | Remapped | Perfect | NC_000005.10:g.(?_ 175563349)_(181263 936_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 175,563,349 | 181,263,936 |
| nssv15606073 | Submitted genomic | NC_000005.9:g.(?_1 74990352)_(1806909 37_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 174,990,352 | 180,690,937 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606073 | GRCh37: NC_000005.9:g.(?_174990352)_(180690937_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767711.1, VCV000625703.1 |