A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559928



Internal ID16000651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98894593..98896535hg38UCSC Ensembl
Innerchr12:99288371..99290313hg19UCSC Ensembl
Innerchr12:97812502..97814444hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381943
hg191943
hg181943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801329
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559928
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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