A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv605259



Internal ID16392668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:166522533..166539493hg38UCSC Ensembl
Innerchr6:166936021..166952981hg19UCSC Ensembl
Innerchr6:166856011..166872971hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3816961
hg1916961
hg1816961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1155238
SamplesHGDP00718
Known GenesRPS6KA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv605259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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