A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224893



Internal ID22368190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23238005..23239942hg38UCSC Ensembl
Outerchr4:23239628..23241565hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3851925
hg1951925
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273985
SamplesHG00512
Known GenesMIR548AJ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224893
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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