nsv4684448
- 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:2,922,555
- 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: 6798 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 3356 SVs from 109 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684448 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 145,430,980 | 148,353,534 |
| nsv4684448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 146,535,393 | 147,825,662 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv16215352 | duplication | mb1:o8 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215352 | Remapped | Pass | NC_000001.11:g.(?_ 145430980)_(148353 534_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 145,430,980 | 148,353,534 |
| nssv16215352 | Submitted genomic | NC_000001.10:g.(?_ 146535393)_(147825 662_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 146,535,393 | 147,825,662 |