A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546267



Internal ID15986990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54518434..54604313hg38UCSC Ensembl
Innerchr1:54984107..55069986hg19UCSC Ensembl
Innerchr1:54756695..54842574hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3885880
hg1985880
hg1885880
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173854
Samples1780854017_A
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546267
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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