nsv4456138
- 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:6,687,125
- Description:GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)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: 17568 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 17548 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4456138 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,696,063 | 77,383,187 |
| nsv4456138 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,561,780 | 78,304,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774677 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846231.2, VCV000685523.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774677 | Remapped | Good | NC_000004.12:g.(?_ 70696063)_(7738318 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,696,063 | 77,383,187 |
| nssv15774677 | Submitted genomic | NC_000004.11:g.(?_ 71561780)_(7830434 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,561,780 | 78,304,341 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774677 | GRCh37: NC_000004.11:g.(?_71561780)_(78304341_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846231.2, VCV000685523.2 | 1 |