A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012242



Internal ID18754778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:124722848..124797029hg38UCSC Ensembl
Innerchr3:124441695..124515876hg19UCSC Ensembl
Innerchr3:125924385..125998566hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3874182
hg1974182
hg1874182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3735288
Samples
Known GenesITGB5, UMPS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012242
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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