A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14374505



Internal ID22326969
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 StatusS
Merged Variantsnsv3239417
Supporting Variants
SamplesNA19240
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)nssv14374505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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