A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546473



Internal ID15987196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70976943..71041858hg38UCSC Ensembl
Innerchr1:71442626..71507541hg19UCSC Ensembl
Innerchr1:71215214..71280129hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3864916
hg1964916
hg1864916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1173015
SamplesHGDP01303
Known GenesPTGER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546473
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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