A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521369



Internal ID15101976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:24468583..24479130hg38UCSC Ensembl
Innerchr18:22048547..22059094hg19UCSC Ensembl
Innerchr18:20302545..20313092hg18UCSC Ensembl
Innerchr18:20302545..20313092hg17UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3810548
hg1910548
hg1810548
hg1710548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697978
Samples
Known GenesHRH4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521369
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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