A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125803



Internal ID15632303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144440024..144515746hg38UCSC Ensembl
Innerchr8:145665407..145741130hg19UCSC Ensembl
Innerchr8:145636215..145711938hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3875723
hg1975724
hg1875724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612943
Supporting Variants
Samples
Known GenesCYHR1, FOXH1, GPT, KIFC2, MFSD3, PPP1R16A, RECQL4, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125803
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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