A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006279



Internal ID19095497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68554293..68604404hg38UCSC Ensembl
Innerchr4:69420011..69470122hg19UCSC Ensembl
Innerchr4:69102606..69152717hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3850112
hg1950112
hg1850112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5281n100
Supporting Variantsnssv3743906
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)nsv1006279
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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