A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3735288



Internal ID18686883
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 StatusS
Merged Variantsnsv1012242
Supporting Variants
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)nssv3735288
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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