A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv157n100



Internal ID20151773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43525952..43606749hg38UCSC Ensembl
chr1:43991623..44072420hg19UCSC Ensembl
chr1:43764210..43845007hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3880798
hg1980798
hg1880798
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004888, nsv1005843
Samples
Known GenesPTPRF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv157n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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