A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593467



Internal ID16034190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3752639..3768342hg38UCSC Ensembl
Innerchr4:3754366..3770069hg19UCSC Ensembl
Innerchr4:3724164..3739867hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3815704
hg1915704
hg1815704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8928n54
Supporting Variantsnssv989296
Samples
Known GenesADRA2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593467
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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