A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559970



Internal ID16000693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99892391..100142047hg38UCSC Ensembl
Innerchr12:100286169..100535825hg19UCSC Ensembl
Innerchr12:98810300..99059956hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38249657
hg19249657
hg18249657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2826n54
Supporting Variantsnssv801490
Samples
Known GenesANKS1B, UHRF1BP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559970
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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