A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210264



Internal ID22358210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225035588..225035649hg38UCSC Ensembl
chr2:225900305..225900366hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5016n152
Supporting Variantsnssv14408401
SamplesNA19240
Known GenesDOCK10
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210264
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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