nsv2820923
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Huddleston et al. 2016
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: 415 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 415 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2820923 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 83,878,245 | 83,878,245 | ||
| nsv2820923 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 83,133,253 | 83,133,253 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13705099 | insertion | Sequencing | Genotyping |
| nssv13710309 | insertion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13705099 | Submitted genomic | NC_000023.11:g.838 78245_83878246ins9 78 | GRCh38 (hg38) | NC_000023.11 | ChrX | 83,878,245 | 83,878,245 | ||
| nssv13710309 | Submitted genomic | NC_000023.11:g.838 78245_83878246ins7 73 | GRCh38 (hg38) | NC_000023.11 | ChrX | 83,878,245 | 83,878,245 | ||
| nssv13705099 | Remapped | Perfect | NC_000023.10:g.831 33253_83133254ins9 78 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 83,133,253 | 83,133,253 |
| nssv13710309 | Remapped | Perfect | NC_000023.10:g.831 33253_83133254ins7 73 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 83,133,253 | 83,133,253 |
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) |
|---|---|---|---|
| nssv13705099 | 1 | 60 | 60 |
| nssv13710309 | 0.969 | 62 | 64 |