A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548360



Internal ID15989083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182390928..182391967hg38UCSC Ensembl
Innerchr1:182360063..182361102hg19UCSC Ensembl
Innerchr1:180626686..180627725hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381040
hg191040
hg181040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv658n54
Supporting Variantsnssv729739
Samples
Known GenesGLUL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548360
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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