A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028477



Internal ID18771008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:147875450..148036654hg38UCSC Ensembl
Innerchr5:147255013..147416217hg19UCSC Ensembl
Innerchr5:147235206..147396410hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38161205
hg19161205
hg18161205
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746649
Samples
Known GenesC5orf46, SCGB3A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028477
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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