A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3613263



Internal ID18911544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9368964..9519200hg38UCSC Ensembl
Innerchr4:9370690..9520845hg19UCSC Ensembl
Innerchr4:8979788..9129943hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38150237
hg19150156
hg18150156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1012598
Supporting Variants
Samples
Known GenesDEFB131, LOC650293, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3613263
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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