A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv153n100



Internal ID20151769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39715819..39848248hg38UCSC Ensembl
chr1:40181491..40313920hg19UCSC Ensembl
chr1:39954078..40086507hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38132430
hg19132430
hg18132430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999978, nsv1009306, nsv1007943, nsv997280, nsv1003494
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv153n100
Frequency
Sample Size29084
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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