A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276337



Internal ID22198633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146175619..146183796hg38UCSC Ensembl
Outerchr5:145555182..145563359hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212645
Supporting Variants
SamplesHG00732
Known GenesLARS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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