A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234689



Internal ID22360444
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267266, nssv14267270, nssv14267267, nssv14267268, nssv14267269
SamplesHG00512, NA19238, HG00732, HG00733, HG00513
Known GenesZFP64
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234689
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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