A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060242



Internal ID19149461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:43620936..43751285hg38UCSC Ensembl
Innerchr18:41200901..41331250hg19UCSC Ensembl
Innerchr18:39454899..39585248hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38130350
hg19130350
hg18130350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725328
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060242
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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