A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9136n54



Internal ID20142560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76112437..76194400hg38UCSC Ensembl
chr4:77033590..77115553hg19UCSC Ensembl
chr4:77252614..77334577hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3881964
hg1981964
hg1881964
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv594693, nsv594694
SamplesHGDP01280
Known GenesART3, NUP54, SCARB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9136n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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