A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256696



Internal ID22268380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45477859..45486963hg38UCSC Ensembl
Outerchr13:46051994..46061098hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3233519
Supporting Variants
SamplesNA19238
Known GenesCOG3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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