A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576813



Internal ID16017536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46901678..46951320hg38UCSC Ensembl
Innerchr18:44481641..44531283hg19UCSC Ensembl
Innerchr18:42735639..42785281hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3849643
hg1949643
hg1849643
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv882697
Samples
Known GenesKATNAL2, PIAS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576813
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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