A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452099



Internal ID22247048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:23844872..23844872hg38UCSC Ensembl
chr4:23846495..23846495hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3533960
Supporting Variants
SamplesHG00733
Known GenesPPARGC1A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14452099
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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