nsv6141718
- 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:106,001
- 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: 372 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 172 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6141718 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,854,779 | 74,960,779 | ||
| nsv6141718 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 74,284,809 | 74,375,488 |
| nsv6141718 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,384,015 | 2,490,015 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17001021 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17001021 | Submitted genomic | NC_000007.14:g.748 54779_74960779dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,854,779 | 74,960,779 | ||
| nssv17001021 | Remapped | Perfect | NW_003871064.1:g.2 384015_2490015dup | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 2,384,015 | 2,490,015 |
| nssv17001021 | Remapped | Pass | NC_000007.13:g.742 84809_74375488dup | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 74,284,809 | 74,375,488 |
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) |
|---|---|---|---|
| nssv17001021 | <0.001 | 1 | 6390 |