nsv7084924
- 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:80,871
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: 402 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 399 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 82 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7084924 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 145,948,859 | 146,029,729 | ||
| nsv7084924 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 145,030,377 | 145,111,247 |
| nsv7084924 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 1,473,250 | 1,554,120 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18455038 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18455038 | Submitted genomic | NC_000023.11:g.145 948859_146029729de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 145,948,859 | 146,029,729 | ||
| nssv18455038 | Remapped | Perfect | NW_004070890.2:g.1 473250_1554120del | GRCh37.p13 | First Pass | NW_004070890.2 | ChrX|NW_00 4070890.2 | 1,473,250 | 1,554,120 |
| nssv18455038 | Remapped | Perfect | NC_000023.10:g.145 030377_145111247de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 145,030,377 | 145,111,247 |
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) |
|---|---|---|---|
| nssv18455038 | 5e-06 | 1 | 200000 |