A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003823



Internal ID18746354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:5201802..5419309hg38UCSC Ensembl
Innerchr3:5243487..5460995hg19UCSC Ensembl
Innerchr3:5218487..5435995hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38217508
hg19217509
hg18217509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4657n100
Supporting Variantsnssv3591640
Samples
Known GenesEDEM1, MIR4790
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003823
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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