A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266646



Internal ID22262173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:25688910..25704409hg38UCSC Ensembl
Outerchr20:25669546..25685045hg19UCSC Ensembl
Cytoband20p11.1
Allele length
AssemblyAllele length
hg3815500
hg1915500
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217025
Supporting Variants
SamplesNA19238
Known GenesZNF337
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266646
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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