A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv878366



Internal ID15825636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12247873..12490503hg38UCSC Ensembl
Innerchr18:12247872..12490502hg19UCSC Ensembl
Innerchr18:12237872..12480502hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38242631
hg19242631
hg18242631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv576496
Supporting Variants
Samples
Known GenesAFG3L2, CIDEA, SLMO1, SPIRE1, TUBB6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv878366
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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