A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227665



Internal ID22370085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176589527..176603634hg38UCSC Ensembl
Outerchr5:176016528..176030635hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg382669
hg192669
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276354
SamplesHG00732
Known GenesCDHR2, GPRIN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227665
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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