A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005234



Internal ID18747765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:73033562..73139537hg38UCSC Ensembl
Innerchr3:73082713..73188688hg19UCSC Ensembl
Innerchr3:73165403..73271378hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38105976
hg19105976
hg18105976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3594160
Samples
Known GenesEBLN2, PPP4R2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005234
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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