A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014285



Internal ID18756819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217740775..217818048hg38UCSC Ensembl
Innerchr2:218605498..218682771hg19UCSC Ensembl
Innerchr2:218313743..218391016hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3877274
hg1977274
hg1877274
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4174n100
Supporting Variantsnssv3586814
Samples
Known GenesDIRC3, TNS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014285
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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