nsv4288144
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:736
- Publication(s):gnomAD_Structural_Variants
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: 31 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 4 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4288144 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 17,694,636 | 17,695,371 |
nsv4288144 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000020.10 | Chr20 | 17,675,281 | 17,676,016 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15858943 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15858943 | Remapped | Perfect | NC_000020.11:g.176 94636_17695371del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 17,694,636 | 17,695,371 |
nssv15858943 | Submitted genomic | NC_000020.10:g.176 75281_17676016del | GRCh37.p13 | NC_000020.10 | Chr20 | 17,675,281 | 17,676,016 |
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) |
---|---|---|---|
nssv15858943 | 9.3e-005 | 2 | 21410 |