A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546259



Internal ID16333668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53687030..53723995hg38UCSC Ensembl
Innerchr1:54152703..54189668hg19UCSC Ensembl
Innerchr1:53925291..53962256hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3836966
hg1936966
hg1836966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173849
SamplesHGDP00515
Known GenesGLIS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546259
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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