A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576819



Internal ID16017542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:47075878..47151256hg38UCSC Ensembl
Innerchr18:44602249..44677627hg19UCSC Ensembl
Innerchr18:42856247..42931625hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3875379
hg1975379
hg1875379
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv882704
Samples
Known GenesHDHD2, KATNAL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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