A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009080



Internal ID19098298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169517624..169568256hg38UCSC Ensembl
Innerchr2:170374134..170424766hg19UCSC Ensembl
Innerchr2:170082380..170133012hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3850633
hg1950633
hg1850633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4104n100
Supporting Variantsnssv3583031
Samples
Known GenesFASTKD1, KLHL41
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009080
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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