nsv4533419
- 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:4,164
- 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: 28 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 7 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4533419 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 41,599,112 | 41,603,275 |
nsv4533419 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 78,726 | 82,889 |
nsv4533419 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000019.9 | Chr19 | 42,105,467 | 42,109,630 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15845876 | deletion | Sequencing | Other |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15845876 | Remapped | Perfect | NT_187620.1:g.7872 6_82889del | GRCh38.p12 | Second Pass | NT_187620.1 | Chr19|NT_1 87620.1 | 78,726 | 82,889 |
nssv15845876 | Remapped | Perfect | NC_000019.10:g.415 99112_41603275del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 41,599,112 | 41,603,275 |
nssv15845876 | Submitted genomic | NC_000019.9:g.4210 5467_42109630del | GRCh37.p13 | NC_000019.9 | Chr19 | 42,105,467 | 42,109,630 |
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) |
---|---|---|---|
nssv15845876 | 9.2e-005 | 2 | 21694 |