A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242328



Internal ID22375241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2148803..2178769hg38UCSC Ensembl
Outerchr11:2170033..2199999hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381198
hg191198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254282, nssv14254283, nssv14254280, nssv14254281
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesIGF2, INS, INS-IGF2, MIR4686, TH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242328
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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