A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2403n100



Internal ID20154019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22572335..23226874hg38UCSC Ensembl
chr15:22553197..23300761hg19UCSC Ensembl
chr15:20054561..20852202hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38654540
hg19747565
hg18797642
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052422, nsv1044828, nsv1044006
Samples
Known GenesCYFIP1, GOLGA6L1, GOLGA8DP, GOLGA8I, HERC2P2, LOC283683, MIR4509-1, MIR4509-2, MIR4509-3, NIPA1, NIPA2, REREP3, TUBGCP5, WHAMMP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2403n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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