A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266280



Internal ID22274967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37336209..37363295hg38UCSC Ensembl
Outerchr20:35964612..35991698hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg3827087
hg1927087
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214746
Supporting Variants
SamplesNA19239
Known GenesSRC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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