nsv4729631
- 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:103,878
- Description:GRCh37/hg19 7q22.1(chr7:100685746-100789623)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: 524 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 524 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729631 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 101,042,465 | 101,146,342 |
| nsv4729631 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,685,746 | 100,789,623 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254022 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258813.1, VCV000979637.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254022 | Remapped | Perfect | NC_000007.14:g.(?_ 101042465)_(101146 342_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,042,465 | 101,146,342 |
| nssv16254022 | Submitted genomic | NC_000007.13:g.(?_ 100685746)_(100789 623_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,685,746 | 100,789,623 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254022 | GRCh37: NC_000007.13:g.(?_100685746)_(100789623_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001258813.1, VCV000979637.1 | 1 |