A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255131



Internal ID22262731
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239524
Supporting Variants
SamplesNA19238
Known GenesSHANK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255131
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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