A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261392



Internal ID22202043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:27625358..27659831hg38UCSC Ensembl
Outerchr17:25952384..25986857hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3834474
hg1934474
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225219
Supporting Variants
SamplesHG00732
Known GenesLGALS9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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