nsv4674768
- 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:7,205,247
- Description:GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)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: 15957 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 15958 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674768 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 167,461,234 | 174,666,480 |
| nsv4674768 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 167,430,471 | 174,635,618 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207743 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005149.1, VCV000814137.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207743 | Remapped | Good | NC_000001.11:g.(?_ 167461234)_(174666 480_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 167,461,234 | 174,666,480 |
| nssv16207743 | Submitted genomic | NC_000001.10:g.(?_ 167430471)_(174635 618_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 167,430,471 | 174,635,618 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207743 | GRCh37: NC_000001.10:g.(?_167430471)_(174635618_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005149.1, VCV000814137.1 | 1 |