A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213244



Internal ID22360252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:12244591..12258424hg38UCSC Ensembl
Outerchr4:12246215..12260048hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273984
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213244
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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