A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012462



Internal ID18754995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105183092..105294801hg38UCSC Ensembl
Innerchr2:105799549..105911258hg19UCSC Ensembl
Innerchr2:105165981..105277690hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38111710
hg19111710
hg18111710
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580103
Samples
Known GenesGPR45, TGFBRAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012462
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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