A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559227



Internal ID16346636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69895940..69896752hg38UCSC Ensembl
Innerchr12:70289720..70290532hg19UCSC Ensembl
Innerchr12:68575987..68576799hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38813
hg19813
hg18813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2684n54
Supporting Variantsnssv797690, nssv797687, nssv797688, nssv797689
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559227
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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