A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254419



Internal ID22295807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67156795..67169738hg38UCSC Ensembl
Outerchr11:66924266..66937209hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3812944
hg1912944
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214179
Supporting Variants
SamplesNA19240
Known GenesKDM2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254419
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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