nsv6231423
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:72
- 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: 234 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6231423 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 63,546,343 | 63,546,414 | ||
| nsv6231423 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 62,766,223 | 62,766,294 |
| nsv6231423 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 562,076 | 562,147 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17950758 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17950758 | Submitted genomic | NC_000023.11:g.635 46343_63546414del | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,546,343 | 63,546,414 | ||
| nssv17950758 | Remapped | Perfect | NW_004070881.1:g.5 62076_562147del | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 562,076 | 562,147 |
| nssv17950758 | Remapped | Perfect | NC_000023.10:g.627 66223_62766294del | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,766,223 | 62,766,294 |
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) |
|---|---|---|---|
| nssv17950758 | 0.01 | 19 | 1903 |