A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059645



Internal ID18802176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11543..326679hg38UCSC Ensembl
Innerchr18:11543..326679hg19UCSC Ensembl
Innerchr18:1543..316679hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38315137
hg19315137
hg18315137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3301n100
Supporting Variantsnssv3569025
Samples
Known GenesCOLEC12, MIR8078, ROCK1P1, THOC1, USP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059645
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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