A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217021



Internal ID22362822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7822918..7866680hg38UCSC Ensembl
Outerchr4:7824645..7868407hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381086
hg191086
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273216, nssv14273215, nssv14273214, nssv14273213
SamplesHG00512, NA19239, NA19240, HG00514
Known GenesAFAP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217021
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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