A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3559551



Internal ID22428351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47785088..47785088hg38UCSC Ensembl
chr11:47806640..47806640hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358236, nssv14358234, nssv14358235
SamplesHG00512, HG00513, HG00514
Known GenesNUP160
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3559551
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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