A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689967



Internal ID15426619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131003496..131056774hg38UCSC Ensembl
Innerchr12:131488041..131541319hg19UCSC Ensembl
Innerchr12:130053994..130107272hg18UCSC Ensembl
Innerchr12:130012921..130066199hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3853279
hg1953279
hg1853279
hg1753279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517271
Supporting Variants
Samples
Known GenesGPR133
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689967
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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