A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801486



Internal ID15748756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99892391..99897556hg38UCSC Ensembl
Innerchr12:100286169..100291334hg19UCSC Ensembl
Innerchr12:98810300..98815465hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385166
hg195166
hg185166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559968
Supporting Variants
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801486
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