A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559849



Internal ID16347258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:96819024..96827502hg38UCSC Ensembl
Innerchr12:97212802..97221280hg19UCSC Ensembl
Innerchr12:95736933..95745411hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388479
hg198479
hg188479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv800869, nssv800871, nssv800865, nssv800866, nssv800863, nssv800864, nssv800870, nssv800867, nssv800868
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559849
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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