A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548320



Internal ID15989043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179486911..179488779hg38UCSC Ensembl
Innerchr1:179456046..179457914hg19UCSC Ensembl
Innerchr1:177722669..177724537hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381869
hg191869
hg181869
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv651n54
Supporting Variantsnssv729361
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548320
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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