A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559921



Internal ID16000644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98770836..98812048hg38UCSC Ensembl
Innerchr12:99164614..99205826hg19UCSC Ensembl
Innerchr12:97688745..97729957hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3841213
hg1941213
hg1841213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801299
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559921
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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