A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002970



Internal ID19092187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47079102..47129117hg38UCSC Ensembl
Innerchr3:47120592..47170607hg19UCSC Ensembl
Innerchr3:47095596..47145611hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3850016
hg1950016
hg1850016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595248
Samples
Known GenesSETD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002970
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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