A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211061



Internal ID22358745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145690285..145696432hg38UCSC Ensembl
Outerchr4:146611437..146617584hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274238
SamplesHG00513
Known GenesC4orf51
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211061
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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