A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548324



Internal ID15989047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179487224..179488483hg38UCSC Ensembl
Innerchr1:179456359..179457618hg19UCSC Ensembl
Innerchr1:177722982..177724241hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381260
hg191260
hg181260
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv653n54
Supporting Variantsnssv729368, nssv729369
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548324
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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