A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576651



Internal ID16017374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:36017567..36959615hg38UCSC Ensembl
Innerchr18:33597530..34539578hg19UCSC Ensembl
Innerchr18:31851528..32793576hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38942049
hg19942049
hg18942049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv878961
Samples
Known GenesELP2, FHOD3, KIAA1328, MOCOS, RPRD1A, SLC39A6, TPGS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576651
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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