A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276258



Internal ID22190927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83041613..83066798hg38UCSC Ensembl
Outerchr5:82337432..82362617hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223412
Supporting Variants
SamplesHG00731
Known GenesSCARNA18, TMEM167A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276258
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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