A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688603



Internal ID15078569
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521122
Supporting Variants
Samples
Known GenesLIMS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688603
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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