A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227271



Internal ID22369817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1391033..1424106hg38UCSC Ensembl
Outerchr5:1391148..1424221hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383897
hg193897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274777, nssv14274774, nssv14274776, nssv14274775
SamplesNA19238, NA19239, HG00732, HG00513
Known GenesSLC6A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227271
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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