nsv5214209
- 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:310
- 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: 136 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5214209 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000016.10 | Chr16 | 57,218,723 | 57,219,032 | ||
nsv5214209 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 57,252,635 | 57,252,944 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16741667 | alu 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16741667 | Submitted genomic | NC_000016.10:g.572 18723_57219032del | GRCh38.p13 | NC_000016.10 | Chr16 | 57,218,723 | 57,219,032 | ||
nssv16741667 | Remapped | Perfect | NC_000016.9:g.5725 2635_57252944del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 57,252,635 | 57,252,944 |
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) |
---|---|
nssv16741667 | 0.097 |