A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017994



Internal ID18760527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22442859..22540901hg38UCSC Ensembl
Innerchr8:22300372..22398414hg19UCSC Ensembl
Innerchr8:22356317..22454359hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3898043
hg1998043
hg1898043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7136n100
Supporting Variantsnssv3685363
Samples
Known GenesPPP3CC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017994
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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