A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548337



Internal ID15989060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638298..179638801hg38UCSC Ensembl
Innerchr1:179607433..179607936hg19UCSC Ensembl
Innerchr1:177874056..177874559hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38504
hg19504
hg18504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv655n54
Supporting Variantsnssv729683, nssv729682
Samples
Known GenesTDRD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548337
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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