A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559965



Internal ID16000688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99884262..99897705hg38UCSC Ensembl
Innerchr12:100278040..100291483hg19UCSC Ensembl
Innerchr12:98802171..98815614hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3813444
hg1913444
hg1813444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2825n54
Supporting Variantsnssv801479
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559965
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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