A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281380



Internal ID22186392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76302168..76307858hg38UCSC Ensembl
Outerchr9:78917084..78922774hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231122
Supporting Variants
SamplesHG00731
Known GenesPCSK5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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