A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598955



Internal ID16039678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:95567749..95800315hg38UCSC Ensembl
Innerchr5:94903453..95136019hg19UCSC Ensembl
Innerchr5:94929209..95161775hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38232567
hg19232567
hg18232567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038099
Samples
Known GenesARSK, GPR150, RFESD, RHOBTB3, SPATA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598955
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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