nsv5563397
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:35,061
- Publication(s):Byrska-Bishop et al. 2022
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: 281 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 284 SVs from 51 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5563397 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 310,531 (-118, +20) | 345,591 (-134, +56) | ||
nsv5563397 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 350,497 (-118, +20) | 385,557 (-134, +56) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16992062 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16992062 | Submitted genomic | NC_000007.14:g.(31 0413_310551)_(3454 57_345647)inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 310,531 (-118, +20) | 345,591 (-134, +56) | ||
nssv16992062 | Remapped | Perfect | NC_000007.13:g.(35 0379_350517)_(3854 23_385613)inv | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 350,497 (-118, +20) | 385,557 (-134, +56) |
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) |
---|---|---|---|
nssv16992062 | <0.001 | 1 | 6404 |