nsv5984125
- 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:6,396
- 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: 162 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5984125 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 40,511,005 | 40,517,400 | ||
nsv5984125 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 40,976,677 | 40,983,072 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17518048 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17518048 | Submitted genomic | NC_000001.11:g.405 11005_40517400del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 40,511,005 | 40,517,400 | ||
nssv17518048 | Remapped | Perfect | NC_000001.10:g.409 76677_40983072del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 40,976,677 | 40,983,072 |