A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219252



Internal ID22364331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149629717..149660728hg38UCSC Ensembl
Outerchr5:149009280..149040291hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7559n152
Supporting Variantsnssv14275262, nssv14275260, nssv14275259, nssv14275261, nssv14275263, nssv14275264
SamplesHG00512, NA19239, NA19240, HG00733, HG00513, HG00514
Known GenesARHGEF37
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219252
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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