A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012615



Internal ID18755147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:186676249..186950429hg38UCSC Ensembl
Innerchr3:186394038..186668217hg19UCSC Ensembl
Innerchr3:187876732..188150911hg18UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38274181
hg19274180
hg18274180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3738457
Samples
Known GenesADIPOQ, ADIPOQ-AS1, EIF4A2, HRG, KNG1, MIR1248, RFC4, SNORA4, SNORA63, SNORA81, SNORD2, ST6GAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012615
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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