A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275931



Internal ID22134391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:54357751..54426777hg38UCSC Ensembl
Outerchr5:53653581..53722607hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227507
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275931
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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