A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248812



Internal ID22377096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63028720..63071212hg38UCSC Ensembl
Outerchr20:61660072..61702564hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266961, nssv14266962, nssv14266963, nssv14266964, nssv14266960
SamplesHG00512, NA19238, HG00731, NA19240, HG00733
Known GenesLINC00029, LINC01056, LOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248812
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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