A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546718



Internal ID15987441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85200850..85201703hg38UCSC Ensembl
Innerchr1:85666533..85667386hg19UCSC Ensembl
Innerchr1:85439121..85439974hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38854
hg19854
hg18854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv349n54
Supporting Variantsnssv718469
Samples
Known GenesSYDE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546718
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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