A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559415



Internal ID16346824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74456903..74494320hg38UCSC Ensembl
Innerchr12:74850683..74888100hg19UCSC Ensembl
Innerchr12:73136950..73174367hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3837418
hg1937418
hg1837418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798860, nssv1175874
Samples1780862459_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559415
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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