A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196852



Internal ID22346798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:116107457..116145759hg38UCSC Ensembl
Outerchr5:115443154..115481456hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3838303
hg1938303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272650, nssv14272651
SamplesNA19238, NA19240
Known GenesCOMMD10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196852
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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