A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021850



Internal ID18764384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83955411..83983055hg38UCSC Ensembl
Innerchr5:83251230..83278874hg19UCSC Ensembl
Innerchr5:83286986..83314630hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3827645
hg1927645
hg1827645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5709n100
Supporting Variantsnssv3639148
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)nsv1021850
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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