nsv4680243
- 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:237,228
- 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: 945 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 945 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680243 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 56,481,826 | 56,719,053 |
| nsv4680243 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000020.10 | Chr20 | 55,056,882 | 55,294,109 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16210066 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16210066 | Remapped | Perfect | NC_000020.11:g.(?_ 56481826)_(5671905 3_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 56,481,826 | 56,719,053 |
| nssv16210066 | Submitted genomic | NC_000020.10:g.(?_ 55056882)_(5529410 9_?)dup | GRCh37.p13 | NC_000020.10 | Chr20 | 55,056,882 | 55,294,109 |
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) |
|---|---|
| nssv16210066 | <0.001 |