A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv794066



Internal ID16088022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42623723..42633276hg38UCSC Ensembl
Innerchr12:43017525..43027078hg19UCSC Ensembl
Innerchr12:41303792..41313345hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389554
hg199554
hg189554
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558706
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)nssv794066
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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