nsv5999125
- 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:381,147
- 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: 1718 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1718 SVs from 94 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5999125 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 19,071,918 | 19,453,064 | ||
nsv5999125 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 19,072,027 | 19,453,173 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17551494 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17551494 | Submitted genomic | NC_000005.10:g.190 71918_19453064del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 19,071,918 | 19,453,064 | ||
nssv17551494 | Remapped | Perfect | NC_000005.9:g.1907 2027_19453173del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 19,072,027 | 19,453,173 |