A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058755



Internal ID19147974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68695641..68843121hg38UCSC Ensembl
Innerchr18:66362878..66510358hg19UCSC Ensembl
Innerchr18:64513858..64661338hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38147481
hg19147481
hg18147481
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3562788
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)nsv1058755
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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