A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013220



Internal ID19102438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229849309..230035273hg38UCSC Ensembl
Innerchr2:230714025..230899989hg19UCSC Ensembl
Innerchr2:230422269..230608233hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38185965
hg19185965
hg18185965
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4179n100
Supporting Variantsnssv3586856, nssv3586855
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)nsv1013220
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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