A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055116



Internal ID18797647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:34919190..34940744hg38UCSC Ensembl
Innerchr11:34940737..34962291hg19UCSC Ensembl
Innerchr11:34897313..34918867hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3821555
hg1921555
hg1821555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518126
Samples
Known GenesPDHX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055116
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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