A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559993



Internal ID16000716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99918617..99997310hg38UCSC Ensembl
Innerchr12:100312395..100391088hg19UCSC Ensembl
Innerchr12:98836526..98915219hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3878694
hg1978694
hg1878694
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801656
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer