A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254281



Internal ID22199750
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242328
Supporting Variants
SamplesHG00732
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)nssv14254281
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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