A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559836



Internal ID16000559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95895082..95916861hg38UCSC Ensembl
Innerchr12:96288860..96310639hg19UCSC Ensembl
Innerchr12:94812991..94834770hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821780
hg1921780
hg1821780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1175739
SamplesHGDP00148
Known GenesCCDC38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559836
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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