nsv4318272
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,897,003
- Publication(s):gnomAD_Structural_Variants
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: 16111 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 16109 SVs from 22 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4318272 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 50,358,651 | 75,255,653 |
nsv4318272 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 51,271,211 | 76,167,888 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16090414 | inversion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16090414 | Remapped | Good | NC_000008.11:g.503 58651_75255653inv | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 50,358,651 | 75,255,653 |
nssv16090414 | Submitted genomic | NC_000008.10:g.512 71211_76167888inv | GRCh37.p13 | NC_000008.10 | Chr8 | 51,271,211 | 76,167,888 |
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) |
---|---|---|---|
nssv16090414 | 4.6e-005 | 1 | 21694 |