nsv6289792
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Naslavsky 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: 99 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 101 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6289792 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 63,719,574 | 63,719,574 | ||
nsv6289792 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 64,186,292 | 64,186,292 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17932808 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17932808 | Submitted genomic | NC_000014.9:g.6371 9574_63719575ins81 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 63,719,574 | 63,719,574 | ||
nssv17932808 | Remapped | Perfect | NC_000014.8:g.6418 6292_64186293ins81 | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 64,186,292 | 64,186,292 |
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) |
---|---|---|---|
nssv17932808 | <0.001 | 1 | 2340 |