A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224380



Internal ID22367830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45030995..45031539hg38UCSC Ensembl
Outerchr3:45072487..45073031hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38666
hg19666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272083
SamplesHG00732
Known GenesCLEC3B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224380
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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