A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1455n152



Internal ID22817158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71140186..71187949hg38UCSC Ensembl
chr11:70851232..70898995hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3847764
hg1947764
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3239524, nsv3235082
SamplesNA19238, HG00732
Known GenesSHANK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1455n152
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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