nsv6594059
- 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:735
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: 127 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6594059 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 41,900,234 | 41,900,968 | ||
| nsv6594059 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000017.10 | Chr17 | 40,056,487 | 40,057,221 |
| nsv6594059 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 186,876 | 187,610 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18242979 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18242979 | Submitted genomic | NC_000017.11:g.419 00234_41900968inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 41,900,234 | 41,900,968 | ||
| nssv18242979 | Remapped | Perfect | NW_003571052.1:g.1 86876_187610inv | GRCh37.p13 | First Pass | NW_003571052.1 | Chr17|NW_0 03571052.1 | 186,876 | 187,610 |
| nssv18242979 | Remapped | Perfect | NC_000017.10:g.400 56487_40057221inv | GRCh37.p13 | Second Pass | NC_000017.10 | Chr17 | 40,056,487 | 40,057,221 |
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) |
|---|---|---|---|
| nssv18242979 | <0.001 | 1 | 36478 |