A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276354



Internal ID22207209
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227665
Supporting Variants
SamplesHG00732
Known GenesCDHR2, GPRIN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276354
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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