A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048243



Internal ID18790774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:14498179..14790901hg38UCSC Ensembl
Innerchr11:14519725..14812447hg19UCSC Ensembl
Innerchr11:14476301..14769023hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38292723
hg19292723
hg18292723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510711
Samples
Known GenesCOPB1, PDE3B, PSMA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048243
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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