A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546167



Internal ID15986890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47021913..47058592hg38UCSC Ensembl
Innerchr1:47487585..47524264hg19UCSC Ensembl
Innerchr1:47260172..47296851hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3836680
hg1936680
hg1836680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173844
SamplesHGDP00674
Known GenesCYP4X1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546167
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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