A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999019



Internal ID18811869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10017635..10133105hg38UCSC Ensembl
Innerchr2:10157762..10273232hg19UCSC Ensembl
Innerchr2:10075213..10190683hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38115471
hg19115471
hg18115471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3715n100
Supporting Variantsnssv3576959
Samples
Known GenesCYS1, KLF11, RRM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999019
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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