A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2594n100



Internal ID20154210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50469213..50823338hg38UCSC Ensembl
chr15:50761410..51115535hg19UCSC Ensembl
chr15:48548702..48902827hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38354126
hg19354126
hg18354126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1054970, nsv1036081, nsv1048621
Samples
Known GenesSPPL2A, TRPM7, USP50, USP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2594n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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