nsv6734417
- 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:1,700
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: 169 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 169 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6734417 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 26,253,701 | 26,255,400 | ||
nsv6734417 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 26,255,323 | 26,257,022 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18497007 | deletion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18497007 | Submitted genomic | NC_000004.12:g.262 53701_26255400del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 26,253,701 | 26,255,400 | ||
nssv18497007 | Remapped | Perfect | NC_000004.11:g.262 55323_26257022del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 26,255,323 | 26,257,022 |
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) |
---|---|---|---|
nssv18497007 | 0.06 | 14507 | 249868 |