A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548323



Internal ID15989046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179487224..179488301hg38UCSC Ensembl
Innerchr1:179456359..179457436hg19UCSC Ensembl
Innerchr1:177722982..177724059hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381078
hg191078
hg181078
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv653n54
Supporting Variantsnssv729366, nssv729367, nssv729365
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548323
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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