nsv6050981
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:813
- Publication(s):Wu et al. 2021
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: 260 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 260 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6050981 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 45,155,565 | 45,156,377 | ||
nsv6050981 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 46,575,480 | 46,576,292 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17649804 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17649804 | Submitted genomic | NC_000021.9:g.4515 5565_45156377dup | GRCh38 (hg38) | NC_000021.9 | Chr21 | 45,155,565 | 45,156,377 | ||
nssv17649804 | Remapped | Perfect | NC_000021.8:g.4657 5480_46576292dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 46,575,480 | 46,576,292 |