nsv6807231
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,818
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: 277 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 277 SVs from 37 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6807231 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 89,684,092 | 89,760,909 | ||
nsv6807231 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 90,393,811 | 90,470,628 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18717793 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18717793 | Submitted genomic | NC_000006.12:g.896 84092_89760909dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 89,684,092 | 89,760,909 | ||
nssv18717793 | Remapped | Perfect | NC_000006.11:g.903 93811_90470628dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 90,393,811 | 90,470,628 |
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) |
---|---|---|---|
nssv18717793 | 4e-06 | 1 | 275570 |