nsv4885569
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:77,712,786
- Publication(s):Abel et al. 2020
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: 187896 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 187848 SVs from 149 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4885569 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 85,193,931 (-113, +113) | 162,906,716 (-119, +119) |
nsv4885569 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 84,489,749 (-113, +113) | 162,333,722 (-119, +119) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16413164 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16413164 | Remapped | Good | NC_000005.10:g.(85 193818_85194044)_( 162906597_16290683 5)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 85,193,931 (-113, +113) | 162,906,716 (-119, +119) |
nssv16413164 | Submitted genomic | NC_000005.9:g.(844 89636_84489862)_(1 62333603_162333841 )inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 84,489,749 (-113, +113) | 162,333,722 (-119, +119) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16413164 | 0.548 | 9230 | 16834 |