nsv7071742
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,743,024
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: 8072 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 8958 SVs from 133 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7071742 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 23,575,130 | 25,318,153 | ||
nsv7071742 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 23,917,317 | 25,714,120 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18763837 | inversion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18763837 | Submitted genomic | NC_000022.11:g.235 75130_25318153inv | GRCh38 (hg38) | NC_000022.11 | Chr22 | 23,575,130 | 25,318,153 | ||
nssv18763837 | Remapped | Good | NC_000022.10:g.239 17317_25714120inv | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 23,917,317 | 25,714,120 |
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) |
---|---|---|---|
nssv18763837 | <0.001 | 168 | 272556 |