A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559969



Internal ID16000692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99892391..99897919hg38UCSC Ensembl
Innerchr12:100286169..100291697hg19UCSC Ensembl
Innerchr12:98810300..98815828hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385529
hg195529
hg185529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2827n54
Supporting Variantsnssv801489, nssv801487, nssv801488
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559969
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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