nsv6593771
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,972,826
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: 9030 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 9030 SVs from 116 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6593771 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 99,795,890 | 101,768,715 | ||
nsv6593771 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 100,336,095 | 102,308,918 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18239790 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18239790 | Submitted genomic | NC_000015.10:g.997 95890_101768715inv | GRCh38 (hg38) | NC_000015.10 | Chr15 | 99,795,890 | 101,768,715 | ||
nssv18239790 | Remapped | Perfect | NC_000015.9:g.1003 36095_102308918inv | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 100,336,095 | 102,308,918 |
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) |
---|---|---|---|
nssv18239790 | 0.013 | 375 | 28544 |