A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009165



Internal ID18751696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69622101..69643600hg38UCSC Ensembl
Innerchr4:70487819..70509318hg19UCSC Ensembl
Innerchr4:70522408..70543907hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3821500
hg1921500
hg1821500
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633059
Samples
Known GenesUGT2A1, UGT2A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009165
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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