A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017113



Internal ID18759648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46846140..48020279hg38UCSC Ensembl
Innerchr6:46813877..47988015hg19UCSC Ensembl
Innerchr6:46921836..48095974hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381174140
hg191174139
hg181174139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657444
Samples
Known GenesCD2AP, GPR110, GPR111, GPR115, GPR116, OPN5, PTCHD4, TNFRSF21
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017113
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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