nsv4729100
- 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:186,782
- Description:GRCh37/hg19 5q35.3(chr5:180533007-180719789)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: 1321 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1322 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729100 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 181,106,007 | 181,292,788 |
| nsv4729100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,533,007 | 180,719,789 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254994 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001258715.1, VCV000979539.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254994 | Remapped | Good | NC_000005.10:g.(?_ 181106007)_(181292 788_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 181,106,007 | 181,292,788 |
| nssv16254994 | Submitted genomic | NC_000005.9:g.(?_1 80533007)_(1807197 89_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,533,007 | 180,719,789 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254994 | GRCh37: NC_000005.9:g.(?_180533007)_(180719789_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001258715.1, VCV000979539.1 | 1 |