A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559268



Internal ID16346677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70480946..70482249hg38UCSC Ensembl
Innerchr12:70874726..70876029hg19UCSC Ensembl
Innerchr12:69160993..69162296hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381304
hg191304
hg181304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv797865
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559268
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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