nsv5422660
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:191,532
- Publication(s):Byrska-Bishop et al. 2022
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: 471 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 449 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5422660 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 52,729,136 (-40, +43) | 52,920,667 (-44, +40) | ||
| nsv5422660 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 52,786,363 (-40, +43) | 52,949,857 (-44, +40) |
| nsv5422660 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,442,251 (-40, +43) | 2,633,782 (-44, +40) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17736998 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17736998 | Submitted genomic | NC_000023.11:g.(52 729096_52729179)_( 52920623_52920707) dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 52,729,136 (-40, +43) | 52,920,667 (-44, +40) | ||
| nssv17736998 | Remapped | Perfect | NW_004070877.1:g.( 2442211_2442294)_( 2633738_2633822)du p | GRCh37.p13 | First Pass | NW_004070877.1 | ChrX|NW_00 4070877.1 | 2,442,251 (-40, +43) | 2,633,782 (-44, +40) |
| nssv17736998 | Remapped | Pass | NC_000023.10:g.(52 786323_52786406)_( 52949813_52949897) dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 52,786,363 (-40, +43) | 52,949,857 (-44, +40) |
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) |
|---|---|---|---|
| nssv17736998 | <0.001 | 3 | 6404 |