nsv3881007
- 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:611,003
- Description:GRCh37/hg19 4q13.1(chr4:60418595-61029597)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: 1844 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1844 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3881007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 59,552,877 | 60,163,879 |
| nsv3881007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 60,418,595 | 61,029,597 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15165069 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000743612.2, VCV000606976.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15165069 | Remapped | Perfect | NC_000004.12:g.(?_ 59552877)_(6016387 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 59,552,877 | 60,163,879 |
| nssv15165069 | Submitted genomic | NC_000004.11:g.(?_ 60418595)_(6102959 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 60,418,595 | 61,029,597 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15165069 | GRCh37: NC_000004.11:g.(?_60418595)_(61029597_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000743612.2, VCV000606976.2 | 1 |