A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239524



Internal ID22374437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71140186..71187949hg38UCSC Ensembl
Outerchr11:70851232..70898995hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1455n152
Supporting Variantsnssv14255131
SamplesNA19238
Known GenesSHANK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239524
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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