A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227089



Internal ID22369690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3578477..3587272hg38UCSC Ensembl
Outerchr1:3495041..3503836hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381644
hg191644
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259781, nssv14259776, nssv14259778, nssv14259779, nssv14259777, nssv14259775, nssv14259780
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known GenesMEGF6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227089
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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