A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546258



Internal ID16333667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53661031..53695872hg38UCSC Ensembl
Innerchr1:54126704..54161545hg19UCSC Ensembl
Innerchr1:53899292..53934133hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3834842
hg1934842
hg1834842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173848
SamplesHGDP01290
Known GenesGLIS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546258
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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