A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266504



Internal ID22135222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62981683..63071212hg38UCSC Ensembl
Outerchr20:61613035..61702564hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382907
hg192907
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237138
Supporting Variants
SamplesHG00513
Known GenesBHLHE23, LINC00029, LINC01056, LOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266504
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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