A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209745



Internal ID22357775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145617304..145617386hg38UCSC Ensembl
chr2:146374872..146374954hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14294359
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209745
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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