nsv7080062
- 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:146,363
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: 630 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 620 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 142 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7080062 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,071,051 | 155,217,413 | ||
| nsv7080062 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,299,326 | 154,445,690 |
| nsv7080062 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,505,030 | 2,651,392 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18656846 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18656846 | Submitted genomic | NC_000023.11:g.155 071051_155217413du p | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,071,051 | 155,217,413 | ||
| nssv18656846 | Remapped | Perfect | NW_003871103.3:g.2 505030_2651392dup | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,505,030 | 2,651,392 |
| nssv18656846 | Remapped | Good | NC_000023.10:g.154 299326_154445690du p | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,299,326 | 154,445,690 |
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) |
|---|---|---|---|
| nssv18656846 | <0.001 | 152 | 216524 |