A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197435



Internal ID22347320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46554265..46554317hg38UCSC Ensembl
chr3:46595755..46595807hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5959n152
Supporting Variantsnssv14409335, nssv14435283
SamplesNA19240, HG00514
Known GenesLRRC2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197435
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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