A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057034



Internal ID18799565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68019389..68866022hg38UCSC Ensembl
Innerchr18:65686626..66533259hg19UCSC Ensembl
Innerchr18:63837606..64684239hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38846634
hg19846634
hg18846634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3390n100
Supporting Variantsnssv3566456
Samples
Known GenesCCDC102B, TMX3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057034
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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