A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv167n100



Internal ID20151783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54985639..55038977hg38UCSC Ensembl
chr1:55451312..55504650hg19UCSC Ensembl
chr1:55223900..55277238hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3853339
hg1953339
hg1853339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997833, nsv1004581
Samples
Known GenesBSND, TMEM61
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv167n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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