nsv4684167
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:84
- Description:
See descriptions for individual calls in download files - Publication(s):Booth et al. 1972, Chang et al. 1991, Maier et al. 2003, Patel et al. 2001, Serjeantson et al. 1994, Tavul et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 119 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 119 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4684167 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 126,693,861 | 126,693,944 |
| nsv4684167 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 127,451,437 | 127,451,520 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16215113 | deletion | Multiple | Multiple | Malaria, resistance to | protective | ClinVar | RCV000019299.37, VCV000017725.3 |
| nssv16215114 | deletion | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000019298.32, VCV000017725.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16215113 | Submitted genomic | NC_000002.12:g.126 693861_126693944de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 126,693,861 | 126,693,944 |
| nssv16215114 | Submitted genomic | NC_000002.12:g.126 693861_126693944de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 126,693,861 | 126,693,944 |
| nssv16215113 | Submitted genomic | NC_000002.11:g.127 451437_127451520de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 127,451,437 | 127,451,520 |
| nssv16215114 | Submitted genomic | NC_000002.11:g.127 451437_127451520de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 127,451,437 | 127,451,520 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16215113 | GRCh37: NC_000002.11:g.127451437_127451520del, GRCh38: NC_000002.12:g.126693861_126693944del | deletion | germline | Malaria, resistance to | protective | ClinVar | RCV000019299.37, VCV000017725.3 |
| nssv16215114 | GRCh37: NC_000002.11:g.127451437_127451520del, GRCh38: NC_000002.12:g.126693861_126693944del | deletion | germline | See cases | Pathogenic | ClinVar | RCV000019298.32, VCV000017725.3 |