A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001279



Internal ID19090496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196792338..196926122hg38UCSC Ensembl
Innerchr3:196519209..196652993hg19UCSC Ensembl
Innerchr3:198003606..198137390hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38133785
hg19133785
hg18133785
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5036n100
Supporting Variantsnssv3617002
Samples
Known GenesPAK2, SENP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001279
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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