A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4682n54



Internal ID20138106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82161942..82298744hg38UCSC Ensembl
chr15:82454283..82591082hg19UCSC Ensembl
chr15:80241338..80378137hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38136803
hg19136800
hg18136800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv570243, nsv570244, nsv570245, nsv570246
SamplesNINDS_115, 1780854325_A
Known GenesADAMTS7P1, EFTUD1, FAM154B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4682n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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