A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546138



Internal ID16333547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43871718..43879620hg38UCSC Ensembl
Innerchr1:44337390..44345292hg19UCSC Ensembl
Innerchr1:44109977..44117879hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg387903
hg197903
hg187903
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv255n54
Supporting Variantsnssv712870, nssv712871
Samples
Known GenesST3GAL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546138
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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