A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5347n100



Internal ID20156963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102253039..102270630hg38UCSC Ensembl
chr4:103174196..103191787hg19UCSC Ensembl
chr4:103393219..103410810hg18UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3817592
hg1917592
hg1817592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013439, nsv1012254
Samples
Known GenesSLC39A8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5347n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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