A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559298



Internal ID16346707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71199271..71210610hg38UCSC Ensembl
Innerchr12:71593051..71604390hg19UCSC Ensembl
Innerchr12:69879318..69890657hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3811340
hg1911340
hg1811340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv798086, nssv798085
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559298
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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