A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527147



Internal ID15107754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9980265..9982851hg38UCSC Ensembl
Innerchr4:9981889..9984475hg19UCSC Ensembl
Innerchr4:9590987..9593573hg18UCSC Ensembl
Innerchr4:9658158..9660744hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg382587
hg192587
hg182587
hg172587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703536
Samples
Known GenesSLC2A9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527147
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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