A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009244



Internal ID19098462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108479180hg38UCSC Ensembl
Innerchr2:108540987..109095636hg19UCSC Ensembl
Innerchr2:107907419..108462068hg18UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38554650
hg19554650
hg18554650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4035n100
Supporting Variantsnssv3580117
Samples
Known GenesGCC2, 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)nsv1009244
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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