A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14416311



Internal ID22151965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35222309..35222309hg38UCSC Ensembl
chr11:35243856..35243856hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3815148
hg1915148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3557342
Supporting Variants
SamplesHG00514
Known GenesCD44
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14416311
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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