A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256676



Internal ID22268391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:41540068..41585645hg38UCSC Ensembl
Outerchr13:42114204..42159781hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237549
Supporting Variants
SamplesNA19238
Known GenesMIR5006, VWA8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256676
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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