A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223544



Internal ID22367280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137676345..137689062hg38UCSC Ensembl
Outerchr5:137012034..137024751hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275887, nssv14275890, nssv14275889, nssv14275888
SamplesHG00512, HG00732, HG00733, HG00513
Known GenesKLHL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223544
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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