nsv4434620
- 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:51,000
- 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: 659 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 687 SVs from 68 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4434620 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,522,892 | 21,573,891 |
| nsv4434620 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 21,523,001 | 21,574,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15753757 | duplication | MDQ010 | Sequencing | Sequence alignment | 777 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15753757 | Remapped | Perfect | NC_000005.10:g.215 22892_21573891dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,522,892 | 21,573,891 |
| nssv15753757 | Submitted genomic | NC_000005.9:g.2152 3001_21574000dup | GRCh37.p13 | NC_000005.9 | Chr5 | 21,523,001 | 21,574,000 |