A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267268



Internal ID22203820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:52074802..52114948hg38UCSC Ensembl
Outerchr20:50691341..50731487hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382508
hg192508
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234689
Supporting Variants
SamplesHG00732
Known GenesZFP64
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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