A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559940



Internal ID16000663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401351..99408633hg38UCSC Ensembl
Innerchr12:99795129..99802411hg19UCSC Ensembl
Innerchr12:98319260..98326542hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387283
hg197283
hg187283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2822n54
Supporting Variantsnssv801366, nssv801370, nssv801369, nssv801367, nssv801368
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559940
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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