nsv5323417
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,481
- Publication(s):Chen 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: 192 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 55 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5323417 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 222,895,473 | 222,897,953 | ||
nsv5323417 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 223,760,191 | 223,762,671 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16769381 | sva deletion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16769381 | Submitted genomic | NC_000002.12:g.222 895473_222897953de l | GRCh38.p13 | NC_000002.12 | Chr2 | 222,895,473 | 222,897,953 | ||
nssv16769381 | Remapped | Perfect | NC_000002.11:g.223 760191_223762671de l | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 223,760,191 | 223,762,671 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
Variant Call ID | Allele Frequency (AF) |
---|---|
nssv16769381 | 0.797 |