A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238152



Internal ID22374079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70783050..70807619hg38UCSC Ensembl
Outerchr11:70629155..70653724hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255125, nssv14255128, nssv14255130, nssv14255126, nssv14255129, nssv14255124, nssv14255123, nssv14255127
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesSHANK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238152
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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