A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003363



Internal ID18745895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:111194749..111222353hg38UCSC Ensembl
Innerchr1:111737371..111764975hg19UCSC Ensembl
Innerchr1:111538894..111566498hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3827605
hg1927605
hg1827605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3701534
Samples
Known GenesDENND2D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003363
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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