A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002423



Internal ID18744955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171325245..171407797hg38UCSC Ensembl
Innerchr1:171294384..171376936hg19UCSC Ensembl
Innerchr1:169561008..169643560hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3882553
hg1982553
hg1882553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3501428
Samples
Known GenesFMO4, TOP1P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002423
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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