A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257371



Internal ID22191181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113161417..113178545hg38UCSC Ensembl
Outerchr13:113815731..113832859hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381460
hg191460
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244085
Supporting Variants
SamplesHG00731
Known GenesPCID2, PROZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257371
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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