A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211059



Internal ID22358743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:3471266..3478247hg38UCSC Ensembl
Outerchr1:3387830..3394811hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382671
hg192671
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259182, nssv14259183, nssv14259184, nssv14259186, nssv14259188, nssv14259185, nssv14259187
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesARHGEF16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211059
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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