nsv6636262
- 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:263,002
- Description:GRCh37/hg19 4q13.2(chr4:68918505-69181506)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: 1026 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1026 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636262 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,052,787 | 68,315,788 |
| nsv6636262 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,918,505 | 69,181,506 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330815 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472676.1, VCV001807870.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330815 | Remapped | Perfect | NC_000004.12:g.(?_ 68052787)_(6831578 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,052,787 | 68,315,788 |
| nssv18330815 | Submitted genomic | NC_000004.11:g.(?_ 68918505)_(6918150 6_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,918,505 | 69,181,506 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330815 | GRCh37: NC_000004.11:g.(?_68918505)_(69181506_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV002472676.1, VCV001807870.1 | 1 |