A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057105



Internal ID18799636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:143546..235928hg38UCSC Ensembl
Innerchr18:143546..235928hg19UCSC Ensembl
Innerchr18:133546..225928hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3892383
hg1992383
hg1892383
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3302n100
Supporting Variantsnssv3569028
Samples
Known GenesTHOC1, USP14
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057105
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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