A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048283



Internal ID19137502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:55118815..55144749hg38UCSC Ensembl
Innerchr13:55692950..55718884hg19UCSC Ensembl
Innerchr13:54590951..54616885hg18UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3825935
hg1925935
hg1825935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523861
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048283
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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