A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221776



Internal ID22366047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8604179..8619227hg38UCSC Ensembl
Outerchr4:8605906..8620954hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274261
SamplesHG00731
Known GenesCPZ
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221776
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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