A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559937



Internal ID16000660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401351..99404766hg38UCSC Ensembl
Innerchr12:99795129..99798544hg19UCSC Ensembl
Innerchr12:98319260..98322675hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383416
hg193416
hg183416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801355, nssv801349, nssv801352, nssv801347, nssv801359, nssv801358, nssv801356, nssv801350, nssv801342, nssv801354, nssv801348, nssv801344, nssv801345, nssv801346, nssv801357, nssv801360, nssv801351, nssv801343, nssv801353
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559937
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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