nsv4431700
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,000
- Publication(s):Deng et al. 2019
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: 308 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 309 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4431700 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 14,365,067 | 14,419,066 |
| nsv4431700 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000012.11 | Chr12 | 14,518,001 | 14,572,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15750645 | duplication | SMI041 | Sequencing | Sequence alignment | 593 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15750645 | Remapped | Perfect | NC_000012.12:g.143 65067_14419066dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 14,365,067 | 14,419,066 |
| nssv15750645 | Submitted genomic | NC_000012.11:g.145 18001_14572000dup | GRCh37.p13 | NC_000012.11 | Chr12 | 14,518,001 | 14,572,000 |