A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv133n100



Internal ID20151749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25228018..25361785hg38UCSC Ensembl
chr1:25554509..25688276hg19UCSC Ensembl
chr1:25427096..25560863hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38133768
hg19133768
hg18133768
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014746, nsv997277, nsv1007012, nsv997459, nsv998928, nsv1008533, nsv1000586, nsv999277, nsv1003875, nsv1013100, nsv1011274, nsv997585, nsv1001418, nsv1009563, nsv1006609
Samples
Known GenesC1orf63, RHD, SYF2, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv133n100
Frequency
Sample Size29084
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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