A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654537



Internal ID15044503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:106971095..106974102hg38UCSC Ensembl
Innerchr12:107364873..107367880hg19UCSC Ensembl
Innerchr12:105889003..105892010hg18UCSC Ensembl
Innerchr12:105867340..105870347hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383008
hg193008
hg183008
hg173008
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516865
Supporting Variants
Samples
Known GenesC12orf23
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654537
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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