A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv989300



Internal ID15936570
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593470
Supporting Variants
Samples
Known GenesADRA2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv989300
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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