A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057354



Internal ID19146573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79124075..79225255hg38UCSC Ensembl
Innerchr18:76884075..76985255hg19UCSC Ensembl
Innerchr18:74985063..75086243hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38101181
hg19101181
hg18101181
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3723248
Samples
Known GenesATP9B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057354
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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