nsv1145813
- Organism: Homo sapiens
- Study:nstd107 (John et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:51,602
- Publication(s):John et al. 2014
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: 181 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1145813 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 9,283,466 | 9,335,067 |
| nsv1145813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 10,122,299 | 10,173,900 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3997172 | duplication | KWB1 | Sequencing | Read depth and paired-end mapping | 8,440 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3997172 | Remapped | Perfect | NC_000021.9:g.(928 3466_?)_(?_9335067 )dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 9,283,466 | 9,335,067 |
| nssv3997172 | Submitted genomic | NC_000021.8:g.(101 22299_?)_(?_101739 00)dup | GRCh37 (hg19) | NC_000021.8 | Chr21 | 10,122,299 | 10,173,900 |