A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273473



Internal ID22298909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14904063..14965039hg38UCSC Ensembl
Outerchr4:14905687..14966663hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228166
Supporting Variants
SamplesNA19240
Known GenesCPEB2-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273473
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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