A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040484



Internal ID18783015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:32929520..33071658hg38UCSC Ensembl
Innerchr11:32951066..33093204hg19UCSC Ensembl
Innerchr11:32907642..33049780hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38142139
hg19142139
hg18142139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710075
Samples
Known GenesDEPDC7, QSER1, TCP11L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040484
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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