A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525554



Internal ID22394932
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 Variantsnssv14297387, nssv14297386
SamplesNA19239, NA19240
Known GenesEPHA4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525554
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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