nsv5321942
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:577
- 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: 186 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 40 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5321942 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000020.11 | Chr20 | 63,919,472 (-30, +284) | 63,920,048 (-261, +29) | ||
nsv5321942 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 62,550,825 (-30, +284) | 62,551,401 (-261, +29) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16775745 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16775745 | Submitted genomic | NC_000020.11:g.(63 919442_63919756)_( 63919787_63920077) del | GRCh38.p13 | NC_000020.11 | Chr20 | 63,919,472 (-30, +284) | 63,920,048 (-261, +29) | ||
nssv16775745 | Remapped | Perfect | NC_000020.10:g.(62 550795_62551109)_( 62551140_62551430) del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 62,550,825 (-30, +284) | 62,551,401 (-261, +29) |
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) |
---|---|
nssv16775745 | <0.001 |