A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998554



Internal ID19158090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229869479..230013133hg38UCSC Ensembl
Innerchr2:230734195..230877849hg19UCSC Ensembl
Innerchr2:230442439..230586093hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38143655
hg19143655
hg18143655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4179n100
Supporting Variantsnssv3586860
Samples
Known GenesFBXO36, TRIP12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998554
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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