A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559022



Internal ID15999745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:57000339..57016605hg38UCSC Ensembl
Innerchr12:57394123..57410389hg19UCSC Ensembl
Innerchr12:55680390..55696656hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3816267
hg1916267
hg1816267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv796311
Samples
Known GenesTAC3, ZBTB39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559022
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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