nsv1076442
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,902
- Publication(s):Thareja et al. 2015
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: 765 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 754 SVs from 63 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1076442 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 21,290,387 | 21,351,288 |
| nsv1076442 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 21,193,699 | 21,254,600 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3762872 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3762872 | Remapped | Perfect | NC_000017.11:g.212 90387_21351288dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 21,290,387 | 21,351,288 |
| nssv3762872 | Submitted genomic | NC_000017.10:g.211 93699_21254600dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 21,193,699 | 21,254,600 |