nsv7052230
- 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:86,635
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: 312 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 312 SVs from 62 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7052230 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 113,516,629 | 113,603,263 | ||
nsv7052230 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 114,274,206 | 114,360,840 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18767549 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18767549 | Submitted genomic | NC_000002.12:g.113 516629_113603263in v | GRCh38 (hg38) | NC_000002.12 | Chr2 | 113,516,629 | 113,603,263 | ||
nssv18767549 | Remapped | Perfect | NC_000002.11:g.114 274206_114360840in v | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 114,274,206 | 114,360,840 |
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) |
---|---|---|---|
nssv18767549 | 5.1e-05 | 14 | 267180 |