A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521122



Internal ID15101729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108577051..108584200hg38UCSC Ensembl
Innerchr2:109193507..109200656hg19UCSC Ensembl
Innerchr2:108559939..108567088hg18UCSC Ensembl
Innerchr2:108652025..108659174hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg387150
hg197150
hg187150
hg177150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682601, nssv688603
Samples
Known GenesLIMS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521122
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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