A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020818



Internal ID18763352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:134002879..134267235hg38UCSC Ensembl
Innerchr4:134924034..135188390hg19UCSC Ensembl
Innerchr4:135143484..135407840hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38264357
hg19264357
hg18264357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5397n100
Supporting Variantsnssv3744227, nssv3744226, nssv3639548, nssv3639546, nssv3744228, nssv3639550, nssv3639549, nssv3639547, nssv3639551
Samples
Known GenesPABPC4L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020818
Frequency
Sample Size29084
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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