A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593470



Internal ID16034193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3765829..3768071hg38UCSC Ensembl
Innerchr4:3767556..3769798hg19UCSC Ensembl
Innerchr4:3737354..3739596hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg382243
hg192243
hg182243
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989299, nssv989300
Samples
Known GenesADRA2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593470
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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