A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256948



Internal ID22131940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:73908182..73936971hg38UCSC Ensembl
Outerchr13:74482319..74511108hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg3828790
hg1928790
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210727
Supporting Variants
SamplesHG00513
Known GenesKLF12
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256948
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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