A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2250n100



Internal ID19012618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20336715..22100273hg38UCSC Ensembl
chr15:20541968..22388224hg19UCSC Ensembl
chr15:18801982..19889588hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381763559
hg191846257
hg181087607
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1043872, nsv1041106, nsv1046051, nsv1048573, nsv1036447, nsv1050217, nsv1040298, nsv1038064, nsv1053704, nsv1048585, nsv1047418, nsv1050213, nsv1040820, nsv1052699, nsv1051477, nsv1050600
Samples
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N4, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2250n100
Frequency
Sample Size29084
Observed Gain49
Observed Loss51
Observed Complex0
Frequencyn/a


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