nsv5215508
- 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:322
- 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: 130 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 130 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5215508 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000015.10 | Chr15 | 34,966,871 (-9, +8) | 34,967,192 (-9, +8) | ||
nsv5215508 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 35,259,072 (-9, +8) | 35,259,393 (-9, +8) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16748206 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16748206 | Submitted genomic | NC_000015.10:g.(34 966862_34966879)_( 34967183_34967200) del | GRCh38.p13 | NC_000015.10 | Chr15 | 34,966,871 (-9, +8) | 34,967,192 (-9, +8) | ||
nssv16748206 | Remapped | Perfect | NC_000015.9:g.(352 59063_35259080)_(3 5259384_35259401)d el | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 35,259,072 (-9, +8) | 35,259,393 (-9, +8) |
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) |
---|---|
nssv16748206 | <0.001 |