A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594109



Internal ID16034832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:45468436..46225830hg38UCSC Ensembl
Innerchr4:45470453..46227847hg19UCSC Ensembl
Innerchr4:45165210..45922604hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38757395
hg19757395
hg18757395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152680
SamplesHGDP00455
Known GenesGABRG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594109
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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