A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230084



Internal ID22371727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141983173..142009928hg38UCSC Ensembl
Outerchr5:141362738..141389493hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383521
hg193521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276886, nssv14276893, nssv14276891, nssv14276885, nssv14276887, nssv14276889, nssv14276892, nssv14276890, nssv14276888
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGNPDA1, RNF14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230084
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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