nsv5460541
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop 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:561,201
- Publication(s):Byrska-Bishop 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: 1864 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1864 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5460541 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 178,681,718 (-20, +23) | 179,242,918 (-24, +20) | ||
| nsv5460541 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 179,602,872 (-20, +23) | 180,164,072 (-24, +20) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16960407 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16960407 | Submitted genomic | NC_000004.12:g.(17 8681698_178681741) _(179242894_179242 938)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 178,681,718 (-20, +23) | 179,242,918 (-24, +20) | ||
| nssv16960407 | Remapped | Perfect | NC_000004.11:g.(17 9602852_179602895) _(180164048_180164 092)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 179,602,872 (-20, +23) | 180,164,072 (-24, +20) |
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) |
|---|---|---|---|
| nssv16960407 | <0.001 | 2 | 6404 |