A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3564107



Internal ID18515702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12302793..12514418hg38UCSC Ensembl
Innerchr18:12302792..12514417hg19UCSC Ensembl
Innerchr18:12292792..12504417hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38211626
hg19211626
hg18211626
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060808
Supporting Variants
Samples
Known GenesAFG3L2, SLMO1, SPIRE1, TUBB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3564107
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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