nsv2818824
- Organism: Homo sapiens
- Study:nstd137 (Huddleston et al. 2016)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:13,077
- 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: 647 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 621 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 135 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2818824 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 155,560,531 | 155,573,607 | ||
| nsv2818824 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 154,790,192 | 154,803,268 |
| nsv2818824 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,994,510 | 3,007,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13696904 | deletion | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13696904 | Submitted genomic | NC_000023.11:g.155 560531_155573607de l13077 | GRCh38 (hg38) | NC_000023.11 | ChrX | 155,560,531 | 155,573,607 | ||
| nssv13696904 | Remapped | Perfect | NW_003871103.3:g.2 994510_3007586del1 3077 | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 2,994,510 | 3,007,586 |
| nssv13696904 | Remapped | Perfect | NC_000023.10:g.154 790192_154803268de l13077 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 154,790,192 | 154,803,268 |
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) |
|---|---|---|---|
| nssv13696904 | 0.5 | 32 | 64 |