A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012378



Internal ID18754911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:243604..278294hg38UCSC Ensembl
Innerchr3:285287..319977hg19UCSC Ensembl
Innerchr3:260287..294977hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3834691
hg1934691
hg1834691
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4615n100
Supporting Variantsnssv3739534
Samples
Known GenesCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012378
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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