nsv4680366
- Organism: Homo sapiens
- Study:nstd189 (Perez-Palma et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:500,515
- Publication(s):Pérez-Palma et al. 2020
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1518 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1518 SVs from 84 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4680366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 225,897,611 | 226,398,125 |
nsv4680366 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 226,762,327 | 227,262,841 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16211104 | deletion | SNP array | SNP genotyping analysis |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16211104 | Remapped | Perfect | NC_000002.12:g.(?_ 225897611)_(226398 125_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 225,897,611 | 226,398,125 |
nssv16211104 | Submitted genomic | NC_000002.11:g.(?_ 226762327)_(227262 841_?)del | GRCh37.p13 | NC_000002.11 | Chr2 | 226,762,327 | 227,262,841 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) |
---|---|
nssv16211104 | <0.001 |