A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701138



Internal ID15091104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106959817..106971095hg38UCSC Ensembl
Innerchr12:107353595..107364873hg19UCSC Ensembl
Innerchr12:105877725..105889003hg18UCSC Ensembl
Innerchr12:105856062..105867340hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3811279
hg1911279
hg1811279
hg1711279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525081
Supporting Variants
Samples
Known GenesC12orf23
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701138
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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