nsv4684442
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić 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:2,758,820
- Publication(s):Smajlagic 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: 11192 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 9033 SVs from 126 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684442 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,097,949 |
| nsv4684442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 19,075,994 | 21,452,238 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215349 | duplication | mb2:o9 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215349 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2109794 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,097,949 |
| nssv16215349 | Submitted genomic | NC_000022.10:g.(?_ 19075994)_(2145223 8_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 19,075,994 | 21,452,238 |