nsv5522062
- 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:1,199
- 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: 79 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5522062 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 7,891,657 (-21, +20) | 7,892,855 (-20, +27) | ||
nsv5522062 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000019.9 | Chr19 | 7,956,542 (-21, +20) | 7,957,740 (-20, +27) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17721080 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17721080 | Submitted genomic | NC_000019.10:g.(78 91636_7891677)_(78 92835_7892882)del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 7,891,657 (-21, +20) | 7,892,855 (-20, +27) | ||
nssv17721080 | Remapped | Perfect | NC_000019.9:g.(795 6521_7956562)_(795 7720_7957767)del | GRCh37.p13 | First Pass | NC_000019.9 | Chr19 | 7,956,542 (-21, +20) | 7,957,740 (-20, +27) |
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) |
---|---|---|---|
nssv17721080 | <0.001 | 1 | 6404 |