A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998374



Internal ID18811224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69581213..69624361hg38UCSC Ensembl
Innerchr4:70446931..70490079hg19UCSC Ensembl
Innerchr4:70481520..70524668hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3843149
hg1943149
hg1843149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633057
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)nsv998374
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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