A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687319



Internal ID15423971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131003496..131033248hg38UCSC Ensembl
Innerchr12:131488041..131517793hg19UCSC Ensembl
Innerchr12:130053994..130083746hg18UCSC Ensembl
Innerchr12:130012921..130042673hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3829753
hg1929753
hg1829753
hg1729753
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)nssv687319
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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