A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044829



Internal ID18787360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:198510..252231hg38UCSC Ensembl
Innerchr11:198510..252231hg19UCSC Ensembl
Innerchr11:188510..242231hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3853722
hg1953722
hg1853722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1010n100
Supporting Variantsnssv3511340
Samples
Known GenesBET1L, MIR6743, ODF3, PSMD13, RIC8A, SIRT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044829
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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