A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192055



Internal ID22342688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106467465..106467556hg38UCSC Ensembl
chr2:107083921..107084012hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4724n152
Supporting Variantsnssv14408261
SamplesNA19240
Known GenesRGPD3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192055
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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