A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999286



Internal ID18812136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108727501hg38UCSC Ensembl
Innerchr2:108540987..109343957hg19UCSC Ensembl
Innerchr2:107907419..108710389hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38802971
hg19802971
hg18802971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4036n100
Supporting Variantsnssv3580120
Samples
Known GenesGCC2, LIMS1, RANBP2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999286
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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