A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007593



Internal ID18750124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9800522..9954661hg38UCSC Ensembl
Innerchr4:9802146..9956285hg19UCSC Ensembl
Innerchr4:9411244..9565383hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38154140
hg19154140
hg18154140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5118n100
Supporting Variantsnssv3738214
Samples
Known GenesSLC2A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007593
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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