A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548322



Internal ID15989045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179486911..179489686hg38UCSC Ensembl
Innerchr1:179456046..179458821hg19UCSC Ensembl
Innerchr1:177722669..177725444hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg382776
hg192776
hg182776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv652n54
Supporting Variantsnssv729364
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548322
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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