nsv5323656
- 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:6,248
- 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: 197 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5323656 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000002.12 | Chr2 | 166,988,451 | 166,994,698 | ||
nsv5323656 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 167,844,961 | 167,851,208 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16770763 | line1 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16770763 | Submitted genomic | NC_000002.12:g.166 988451_166994698de l | GRCh38.p13 | NC_000002.12 | Chr2 | 166,988,451 | 166,994,698 | ||
nssv16770763 | Remapped | Perfect | NC_000002.11:g.167 844961_167851208de l | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 167,844,961 | 167,851,208 |
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) |
---|---|
nssv16770763 | 0.054 |