A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197217



Internal ID22347121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216035482..216081403hg38UCSC Ensembl
chr2:216900205..216946126hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3845922
hg1945922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4988n152
Supporting Variantsnssv14433847
SamplesHG00514
Known GenesPECR
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197217
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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