A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704162



Internal ID15094128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108492004hg38UCSC Ensembl
Innerchr2:108540987..109108460hg19UCSC Ensembl
Innerchr2:107907419..108474892hg18UCSC Ensembl
Innerchr2:107999505..108566978hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38567474
hg19567474
hg18567474
hg17567474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527686
Supporting Variants
Samples
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704162
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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