A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580103



Internal ID18531698
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 StatusS
Merged Variantsnsv1012462
Supporting Variants
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)nssv3580103
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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