A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694210



Internal ID15084176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130954899..130957309hg38UCSC Ensembl
Innerchr12:131439444..131441854hg19UCSC Ensembl
Innerchr12:130005397..130007807hg18UCSC Ensembl
Innerchr12:129964324..129966734hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382411
hg192411
hg182411
hg172411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519628
Supporting Variants
Samples
Known GenesGPR133
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694210
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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