A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002255



Internal ID18744787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113362460..113479043hg38UCSC Ensembl
Innerchr2:114120037..114236620hg19UCSC Ensembl
Innerchr2:113836507..113953090hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38116584
hg19116584
hg18116584
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580239
Samples
Known GenesCBWD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002255
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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