nsv3875513
- 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:2,007,316
- Description:GRCh37/hg19 5q35.2-35.3(chr5:175433876-177441189)x1 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: 6937 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 6937 SVs from 113 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3875513 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 176,006,873 | 178,014,188 |
| nsv3875513 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 175,433,876 | 177,441,189 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15166660 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000745339.2, VCV000608703.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15166660 | Remapped | Perfect | NC_000005.10:g.(?_ 176006873)_(178014 188_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 176,006,873 | 178,014,188 |
| nssv15166660 | Submitted genomic | NC_000005.9:g.(?_1 75433876)_(1774411 89_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 175,433,876 | 177,441,189 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15166660 | GRCh37: NC_000005.9:g.(?_175433876)_(177441189_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000745339.2, VCV000608703.2 | 1 |