A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257404



Internal ID22191236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:27061915..27066359hg38UCSC Ensembl
Outerchr13:27636052..27640496hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg385035
hg195035
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232251
Supporting Variants
SamplesHG00731
Known GenesUSP12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257404
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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