A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273953



Internal ID22296652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1371025..1416658hg38UCSC Ensembl
Outerchr4:1364813..1410446hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381833
hg191833
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228687
Supporting Variants
SamplesNA19240
Known GenesCRIPAK, UVSSA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273953
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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