A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576997



Internal ID16364406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54724339..54729090hg38UCSC Ensembl
Innerchr18:52391570..52396321hg19UCSC Ensembl
Innerchr18:50542568..50547319hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg384752
hg194752
hg184752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5950n54
Supporting Variantsnssv883702
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576997
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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