A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14451232



Internal ID22246300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31260014..31260509hg38UCSC Ensembl
chr22:31656000..31656495hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192845
Supporting Variants
SamplesHG00733
Known GenesLIMK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14451232
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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