A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010838



Internal ID19100055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68560718..68620249hg38UCSC Ensembl
Innerchr4:69426436..69485967hg19UCSC Ensembl
Innerchr4:69109031..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3859532
hg1959532
hg1859532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5283n100
Supporting Variantsnssv3628768, nssv3628769
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)nsv1010838
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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