A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005825



Internal ID19095042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:246010906..246525333hg38UCSC Ensembl
Innerchr1:246174208..246688635hg19UCSC Ensembl
Innerchr1:244240831..244755258hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38514428
hg19514428
hg18514428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501775
Samples
Known GenesLOC255654, SMYD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005825
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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