nsv4680180
- 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:594,870
- 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: 2364 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2365 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4680180 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 76,057,535 | 76,652,404 |
nsv4680180 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 74,053,616 | 74,648,486 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16210754 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16210754 | Remapped | Perfect | NC_000017.11:g.(?_ 76057535)_(7665240 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 76,057,535 | 76,652,404 |
nssv16210754 | Submitted genomic | NC_000017.10:g.(?_ 74053616)_(7464848 6_?)dup | GRCh37.p13 | NC_000017.10 | Chr17 | 74,053,616 | 74,648,486 |
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) |
---|---|
nssv16210754 | <0.001 |