A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225746



Internal ID22368783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:21277768..21321823hg38UCSC Ensembl
Outerchr20:21258406..21302461hg19UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg3844056
hg1944056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267223, nssv14267224, nssv14266255, nssv14266254, nssv14266252, nssv14266253, nssv14266256
SamplesHG00512, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesXRN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225746
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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