A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239417



Internal ID22374410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70740042..70740097hg38UCSC Ensembl
chr11:70586147..70586202hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419261, nssv14445489, nssv14374505
SamplesNA19240, HG00733, HG00514
Known GenesSHANK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239417
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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