nsv7085100
- 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:12,673
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: 294 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7085100 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 147,218,131 | 147,230,803 | ||
| nsv7085100 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 146,299,649 | 146,312,321 |
| nsv7085100 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 2,742,522 | 2,755,194 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18458968 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18458968 | Submitted genomic | NC_000023.11:g.147 218131_147230803de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 147,218,131 | 147,230,803 | ||
| nssv18458968 | Remapped | Perfect | NW_004070890.2:g.2 742522_2755194del | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 2,742,522 | 2,755,194 |
| nssv18458968 | Remapped | Perfect | NC_000023.10:g.146 299649_146312321de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 146,299,649 | 146,312,321 |
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) |
|---|---|---|---|
| nssv18458968 | 9e-06 | 2 | 222222 |