A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548333



Internal ID15989056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179499010..179500179hg38UCSC Ensembl
Innerchr1:179468145..179469314hg19UCSC Ensembl
Innerchr1:177734768..177735937hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381170
hg191170
hg181170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv654n54
Supporting Variantsnssv729383, nssv729384, nssv729382
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548333
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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