nsv4684417
- Organism: Homo sapiens
- Study:nstd192 (Smajlagić et al. 2020)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,766,802
- 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: 11224 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 10347 SVs from 133 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684417 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,105,931 |
| nsv4684417 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,892,574 | 21,460,220 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215344 | duplication | mb1:o54 | SNP array | SNP genotyping analysis |
| nssv16215386 | deletion | mb1:o52 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215344 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2110593 1_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,105,931 |
| nssv16215386 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(2110593 1_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,339,130 | 21,105,931 |
| nssv16215344 | Submitted genomic | NC_000022.10:g.(?_ 18892574)_(2146022 0_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,892,574 | 21,460,220 | ||
| nssv16215386 | Submitted genomic | NC_000022.10:g.(?_ 18892574)_(2146022 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,892,574 | 21,460,220 |