nsv4680708
- 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:884,273
- 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: 3152 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2970 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4680708 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,205,667 | 44,089,939 |
| nsv4680708 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 41,357,686 | 42,167,307 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16211118 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16211118 | Remapped | Pass | NC_000017.11:g.(?_ 43205667)_(4408993 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,205,667 | 44,089,939 |
| nssv16211118 | Submitted genomic | NC_000017.10:g.(?_ 41357686)_(4216730 7_?)dup | GRCh37.p13 | NC_000017.10 | Chr17 | 41,357,686 | 42,167,307 |
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) |
|---|---|
| nssv16211118 | 0.001 |