A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045952



Internal ID19135171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:103067310..103334583hg38UCSC Ensembl
Innerchr11:102938039..103205311hg19UCSC Ensembl
Innerchr11:102443249..102710521hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38267274
hg19267273
hg18267273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517599
Samples
Known GenesDCUN1D5, DYNC2H1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045952
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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