A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593569



Internal ID16034292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7289636..7624409hg38UCSC Ensembl
Innerchr4:7291363..7626136hg19UCSC Ensembl
Innerchr4:7342264..7677036hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38334774
hg19334774
hg18334773
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv990880
Samples
Known GenesMIR4274, MIR4798, PSAPL1, SORCS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593569
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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