A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576640



Internal ID16364049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:33274273..33350454hg38UCSC Ensembl
Innerchr18:30854237..30930418hg19UCSC Ensembl
Innerchr18:29108235..29184416hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3876182
hg1976182
hg1876182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5883n54
Supporting Variantsnssv878951, nssv878950, nssv878952
Samples
Known GenesCCDC178
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576640
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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