nsv3874231
- 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:7,544,362
- Description:GRCh37/hg19 5q14.3-15(chr5:87512314-95096562)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: 14558 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 14511 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3874231 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 88,216,497 | 95,760,858 |
| nsv3874231 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 87,512,314 | 95,096,562 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15167313 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000744913.2, VCV000608277.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15167313 | Remapped | Good | NC_000005.10:g.(?_ 88216497)_(9576085 8_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 88,216,497 | 95,760,858 |
| nssv15167313 | Submitted genomic | NC_000005.9:g.(?_8 7512314)_(95096562 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 87,512,314 | 95,096,562 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15167313 | GRCh37: NC_000005.9:g.(?_87512314)_(95096562_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000744913.2, VCV000608277.2 | 1 |