nsv7011542
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:268,223
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: 1032 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1032 SVs from 79 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7011542 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000020.11 | Chr20 | 2,347,591 | 2,615,813 | ||
nsv7011542 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 2,328,237 | 2,596,459 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18642651 | duplication | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18642651 | Submitted genomic | NC_000020.11:g.234 7591_2615813dup | GRCh38 (hg38) | NC_000020.11 | Chr20 | 2,347,591 | 2,615,813 | ||
nssv18642651 | Remapped | Perfect | NC_000020.10:g.232 8237_2596459dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 2,328,237 | 2,596,459 |
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) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv18642651 | 3.2e-05 | 9 | 275490 |