A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272417



Internal ID22265900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55392765..55403023hg38UCSC Ensembl
Outerchr4:56258932..56269190hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3810259
hg1910259
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209500
Supporting Variants
SamplesNA19238
Known GenesTMEM165
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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