A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3557342



Internal ID22426149
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 StatusM
Merged Variants
Supporting Variantsnssv14416311
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)nsv3557342
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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