A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580120



Internal ID18531715
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 StatusS
Merged Variantsnsv999286
Supporting Variants
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)nssv3580120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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