A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546268



Internal ID15986991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54559255..54584133hg38UCSC Ensembl
Innerchr1:55024928..55049806hg19UCSC Ensembl
Innerchr1:54797516..54822394hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3824879
hg1924879
hg1824879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173855
SamplesHGDP01195
Known GenesACOT11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546268
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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