nsv5323399
- 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:6,080
- 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: 143 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 34 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5323399 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000009.12 | Chr9 | 101,102,097 (-3, +2) | 101,108,176 (-3, +1) | ||
nsv5323399 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 103,864,379 (-3, +2) | 103,870,458 (-3, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16739225 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16739225 | Submitted genomic | NC_000009.12:g.(10 1102094_101102099) _(101108173_101108 177)del | GRCh38.p13 | NC_000009.12 | Chr9 | 101,102,097 (-3, +2) | 101,108,176 (-3, +1) | ||
nssv16739225 | Remapped | Perfect | NC_000009.11:g.(10 3864376_103864381) _(103870455_103870 459)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 103,864,379 (-3, +2) | 103,870,458 (-3, +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) |
---|---|
nssv16739225 | 0.001 |