A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266954



Internal ID22135344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63024296..63030623hg38UCSC Ensembl
Outerchr20:61655648..61661975hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381370
hg191370
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235193
Supporting Variants
SamplesHG00513
Known GenesLOC63930
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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