A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052244



Internal ID19141463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:60322050..60359383hg38UCSC Ensembl
Innerchr13:60896184..60933517hg19UCSC Ensembl
Innerchr13:59794185..59831518hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3837334
hg1937334
hg1837334
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711768
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)nsv1052244
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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