A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559972



Internal ID16000695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99892614..99897813hg38UCSC Ensembl
Innerchr12:100286392..100291591hg19UCSC Ensembl
Innerchr12:98810523..98815722hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385200
hg195200
hg185200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2827n54
Supporting Variantsnssv801492
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559972
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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