A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546787



Internal ID15987510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89011229..89012467hg38UCSC Ensembl
Innerchr1:89476912..89478150hg19UCSC Ensembl
Innerchr1:89249500..89250738hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381239
hg191239
hg181239
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv361n54
Supporting Variantsnssv718859
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546787
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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