A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558842



Internal ID16346251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50578353..50581603hg38UCSC Ensembl
Innerchr12:50972136..50975386hg19UCSC Ensembl
Innerchr12:49258403..49261653hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383251
hg193251
hg183251
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv795827
Samples
Known GenesDIP2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558842
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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