nsv7009534
- 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:18,066
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: 361 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 361 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv7009534 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 1,090,366 | 1,108,431 | ||
nsv7009534 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 1,090,365 | 1,108,430 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18638502 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv18638502 | Submitted genomic | NC_000019.10:g.109 0366_1108431dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 1,090,366 | 1,108,431 | ||
nssv18638502 | Remapped | Perfect | NC_000019.9:g.1090 365_1108430dup | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 1,090,365 | 1,108,430 |
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) |
---|---|---|---|
nssv18638502 | 4e-06 | 1 | 275192 |