nsv5328802
- 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:2,592
- 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: 158 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 158 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5328802 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000006.12 | Chr6 | 29,717,711 (-1, +5) | 29,720,302 (-4, +1) | ||
nsv5328802 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,685,488 (-1, +5) | 29,688,079 (-4, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16756704 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16756704 | Submitted genomic | NC_000006.12:g.(29 717710_29717716)_( 29720298_29720303) del | GRCh38.p13 | NC_000006.12 | Chr6 | 29,717,711 (-1, +5) | 29,720,302 (-4, +1) | ||
nssv16756704 | Remapped | Perfect | NC_000006.11:g.(29 685487_29685493)_( 29688075_29688080) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,685,488 (-1, +5) | 29,688,079 (-4, +1) |
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) |
---|---|
nssv16756704 | 0.694 |