A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559950



Internal ID16000673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99402273..99408633hg38UCSC Ensembl
Innerchr12:99796051..99802411hg19UCSC Ensembl
Innerchr12:98320182..98326542hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386361
hg196361
hg186361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2822n54
Supporting Variantsnssv801462
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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