A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548338



Internal ID15989061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638298..179639326hg38UCSC Ensembl
Innerchr1:179607433..179608461hg19UCSC Ensembl
Innerchr1:177874056..177875084hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381029
hg191029
hg181029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729684
Samples
Known GenesTDRD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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