A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558877



Internal ID15999600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:51296967..51340167hg38UCSC Ensembl
Innerchr12:51690751..51733951hg19UCSC Ensembl
Innerchr12:49977018..50020218hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3843201
hg1943201
hg1843201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1176304
SamplesHGDP00845
Known GenesBIN2, CELA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558877
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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