A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576894



Internal ID16364303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:51275194..51610970hg38UCSC Ensembl
Innerchr18:48801564..49137340hg19UCSC Ensembl
Innerchr18:47055562..47391338hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38335777
hg19335777
hg18335777
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv883094
Samples
Known GenesLOC100287225
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576894
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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