nsv4685549
- Organism: Homo sapiens
- Study:nstd194 (Lee et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Lee 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: 89 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 26 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4685549 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 43,524,171 | 43,524,171 |
nsv4685549 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 43,917,974 | 43,917,974 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16216486 | insertion | Sequencing | de novo and local sequence assembly |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16216486 | Remapped | Perfect | NC_000012.12:g.435 24171_43524172ins1 076 | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 43,524,171 | 43,524,171 |
nssv16216486 | Submitted genomic | NC_000012.11:g.439 17974_43917975ins1 076 | GRCh37 (hg19) | NC_000012.11 | Chr12 | 43,917,974 | 43,917,974 |
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) |
---|---|
nssv16216486 | 0.328 |