A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233415



Internal ID22372754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:55946064..55986828hg38UCSC Ensembl
Outerchr15:56238262..56279026hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg386086
hg196086
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259576, nssv14259578, nssv14259577, nssv14259574, nssv14259575
SamplesNA19238, NA19239, NA19240, HG00513, HG00514
Known GenesNEDD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233415
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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