A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257427



Internal ID22200789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113149054..113178545hg38UCSC Ensembl
Outerchr13:113803368..113832859hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38867
hg19867
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246163
Supporting Variants
SamplesHG00732
Known GenesF10, PCID2, PROZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257427
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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