A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224996



Internal ID22368262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:23599216..23610866hg38UCSC Ensembl
Outerchr3:23640707..23652357hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3821763
hg1921763
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272478
SamplesNA19240
Known GenesMIR548AC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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