A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241716



Internal ID22375049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25589894..25608226hg38UCSC Ensembl
Outerchr20:25570530..25588862hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266413, nssv14266416, nssv14266410, nssv14266414, nssv14266412, nssv14266411, nssv14266415, nssv14266409
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241716
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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