A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546134



Internal ID16333543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43871666..43892476hg38UCSC Ensembl
Innerchr1:44337338..44358148hg19UCSC Ensembl
Innerchr1:44109925..44130735hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3820811
hg1920811
hg1820811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712756
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546134
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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