A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559960



Internal ID16000683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99656370..99776058hg38UCSC Ensembl
Innerchr12:100050148..100169836hg19UCSC Ensembl
Innerchr12:98574279..98693967hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38119689
hg19119689
hg18119689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801476
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559960
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