nsv5485253
- 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:56
- 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: 125 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5485253 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 66,132,020 | 66,132,075 | ||
nsv5485253 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 65,597,007 | 65,597,062 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16997628 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16997628 | Submitted genomic | NC_000007.14:g.661 32020_66132075dup | GRCh38 (hg38) | NC_000007.14 | Chr7 | 66,132,020 | 66,132,075 | ||
nssv16997628 | Remapped | Perfect | NC_000007.13:g.655 97007_65597062dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 65,597,007 | 65,597,062 |
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) |
---|---|---|---|
nssv16997628 | 0.793 | 4147 | 5226 |