A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558705



Internal ID16346114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:42623723..42629144hg38UCSC Ensembl
Innerchr12:43017525..43022946hg19UCSC Ensembl
Innerchr12:41303792..41309213hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385422
hg195422
hg185422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv794065
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558705
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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