A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14423090



Internal ID22161908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:80532395..80532395hg38UCSC Ensembl
chr3:80581545..80581545hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385771
hg195771
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540302
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14423090
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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