nsv5448817
- 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:4,897
- 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: 152 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 27 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5448817 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 9,412,587 | 9,417,483 | ||
nsv5448817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 9,454,271 | 9,459,167 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16930804 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16930804 | Submitted genomic | NC_000003.12:g.941 2587_9417483del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 9,412,587 | 9,417,483 | ||
nssv16930804 | Remapped | Perfect | NC_000003.11:g.945 4271_9459167del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 9,454,271 | 9,459,167 |
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) |
---|---|---|---|
nssv16930804 | <0.001 | 3 | 6400 |