A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266499



Internal ID22187052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62331957..62382775hg38UCSC Ensembl
Outerchr20:60907013..60957831hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382546
hg192546
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245958
Supporting Variants
SamplesHG00731
Known GenesLAMA5, MIR4758
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266499
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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