A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053599



Internal ID18796130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:85930576..85973310hg38UCSC Ensembl
Innerchr11:85641619..85684353hg19UCSC Ensembl
Innerchr11:85319267..85362001hg18UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3842735
hg1942735
hg1842735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1247n100
Supporting Variantsnssv3710695
Samples
Known GenesPICALM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053599
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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