A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003066



Internal ID18745598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:196371892..196687288hg38UCSC Ensembl
Innerchr3:196098763..196414159hg19UCSC Ensembl
Innerchr3:197583160..197898556hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38315397
hg19315397
hg18315397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3616995
Samples
Known GenesC3orf43, FBXO45, NRROS, RNF168, UBXN7, WDR53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003066
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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