A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594204



Internal ID16034927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:55400806..55402340hg38UCSC Ensembl
Innerchr4:56266973..56268507hg19UCSC Ensembl
Innerchr4:55961730..55963264hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv998039
Samples
Known GenesTMEM165
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594204
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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