A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256886



Internal ID22279449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43648592..43721151hg38UCSC Ensembl
Outerchr13:44222728..44295287hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3872560
hg1972560
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226236
Supporting Variants
SamplesNA19239
Known GenesENOX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256886
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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