A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548364



Internal ID15989087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182391461..182392329hg38UCSC Ensembl
Innerchr1:182360596..182361464hg19UCSC Ensembl
Innerchr1:180627219..180628087hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38869
hg19869
hg18869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv659n54
Supporting Variantsnssv729744
Samples
Known GenesGLUL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548364
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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