A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206187



Internal ID22354769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425159hg38UCSC Ensembl
chr2:222289674..222289879hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5004n152
Supporting Variantsnssv14408392
SamplesNA19240
Known GenesEPHA4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206187
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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