A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002813



Internal ID19092030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229854253..230039159hg38UCSC Ensembl
Innerchr2:230718969..230903875hg19UCSC Ensembl
Innerchr2:230427213..230612119hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38184907
hg19184907
hg18184907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4179n100
Supporting Variantsnssv3586859
Samples
Known GenesFBXO36, SLC16A14, TRIP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002813
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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