A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3628506



Internal ID18580101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68524562..68604404hg38UCSC Ensembl
Innerchr4:69390280..69470122hg19UCSC Ensembl
Innerchr4:69072875..69152717hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3879843
hg1979843
hg1879843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012787
Supporting Variants
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3628506
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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