A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577369



Internal ID16364778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:68713228..68826170hg38UCSC Ensembl
Innerchr18:66380465..66493407hg19UCSC Ensembl
Innerchr18:64531445..64644387hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38112943
hg19112943
hg18112943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv886477
Samples
Known GenesCCDC102B, TMX3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577369
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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