A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043976



Internal ID18786507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:104010508..104655675hg38UCSC Ensembl
Innerchr11:103881236..104526403hg19UCSC Ensembl
Innerchr11:103386446..104031613hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38645168
hg19645168
hg18645168
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3507525
Samples
Known GenesDDI1, PDGFD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043976
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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