A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066479



Internal ID18809010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47979198..48028136hg38UCSC Ensembl
Innerchr18:45505569..45554507hg19UCSC Ensembl
Innerchr18:43759567..43808505hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3848939
hg1948939
hg1848939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726074
Samples
Known GenesZBTB7C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066479
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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