A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv795295



Internal ID16089251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47552014..47587530hg38UCSC Ensembl
Innerchr12:47945797..47981313hg19UCSC Ensembl
Innerchr12:46232064..46267580hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3835517
hg1935517
hg1835517
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558787
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv795295
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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