A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231122



Internal ID22372139
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281381, nssv14281380
SamplesNA19239, HG00731
Known GenesPCSK5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231122
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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