A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801338



Internal ID15748608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99399467..99404766hg38UCSC Ensembl
Innerchr12:99793245..99798544hg19UCSC Ensembl
Innerchr12:98317376..98322675hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385300
hg195300
hg185300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559934
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801338
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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