nsv7089048
- 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:401,838
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: 675 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 681 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7089048 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 76,615,098 | 77,016,935 | ||
| nsv7089048 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 75,835,502 | 76,237,360 |
| nsv7089048 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 634,518 | 1,036,355 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18659412 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18659412 | Submitted genomic | NC_000023.11:g.766 15098_77016935dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,615,098 | 77,016,935 | ||
| nssv18659412 | Remapped | Perfect | NW_003871100.1:g.6 34518_1036355dup | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 634,518 | 1,036,355 |
| nssv18659412 | Remapped | Good | NC_000023.10:g.758 35502_76237360dup | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,835,502 | 76,237,360 |
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) |
|---|---|---|---|
| nssv18659412 | 5e-06 | 1 | 200000 |