nsv5486332
- 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:667
- 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: 295 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 268 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5486332 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,244,644 | 74,245,310 | ||
| nsv5486332 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,658,974 | 73,659,640 |
| nsv5486332 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,773,880 | 1,774,546 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17000963 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17000963 | Submitted genomic | NC_000007.14:g.742 44644_74245310dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,244,644 | 74,245,310 | ||
| nssv17000963 | Remapped | Perfect | NW_003871064.1:g.1 773880_1774546dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,773,880 | 1,774,546 |
| nssv17000963 | Remapped | Perfect | NC_000007.13:g.736 58974_73659640dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,658,974 | 73,659,640 |
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) |
|---|---|---|---|
| nssv17000963 | <0.001 | 4 | 6404 |