A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005733



Internal ID19094950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:22745683..22831894hg38UCSC Ensembl
Innerchr4:22747306..22833517hg19UCSC Ensembl
Innerchr4:22356404..22442615hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3886212
hg1986212
hg1886212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3737754
Samples
Known GenesGBA3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005733
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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