A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012787



Internal ID19102004
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3628506, nssv3628505, nssv3628504, nssv3628502, nssv3628503
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)nsv1012787
Frequency
Sample Size11257
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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