A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527491



Internal ID15108098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108650418hg38UCSC Ensembl
Innerchr2:108540987..109266874hg19UCSC Ensembl
Innerchr2:107907419..108633306hg18UCSC Ensembl
Innerchr2:107999505..108725392hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38725888
hg19725888
hg18725888
hg17725888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703939
Samples
Known GenesGCC2, LIMS1, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527491
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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