A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230569



Internal ID22371964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:5146615..5152499hg38UCSC Ensembl
Outerchr19:5146626..5152510hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38715
hg19715
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263052
SamplesNA19238
Known GenesKDM4B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230569
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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