A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3283211



Internal ID22381552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71167989..71168342hg38UCSC Ensembl
chr11:70879035..70879388hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1457n152
Supporting Variantsnssv14417742
SamplesHG00514
Known GenesSHANK2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3283211
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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