nsv4676086
- 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:1,599,022
- Description:GRCh37/hg19 5q33.3-34(chr5:159714197-161313217)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: 3855 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3855 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4676086 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 160,287,190 | 161,886,211 |
| nsv4676086 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 159,714,197 | 161,313,217 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16208051 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005749.1, VCV000814759.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16208051 | Remapped | Perfect | NC_000005.10:g.(?_ 160287190)_(161886 211_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 160,287,190 | 161,886,211 |
| nssv16208051 | Submitted genomic | NC_000005.9:g.(?_1 59714197)_(1613132 17_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 159,714,197 | 161,313,217 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16208051 | GRCh37: NC_000005.9:g.(?_159714197)_(161313217_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005749.1, VCV000814759.1 | 1 |