A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017404



Internal ID18759938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83955411..83984805hg38UCSC Ensembl
Innerchr5:83251230..83280624hg19UCSC Ensembl
Innerchr5:83286986..83316380hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3829395
hg1929395
hg1829395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5709n100
Supporting Variantsnssv3639149
Samples
Known GenesEDIL3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017404
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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