A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626119



Internal ID15849652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104975702..104978093hg38UCSC Ensembl
Outerchr12:104974916..104980359hg38UCSC Ensembl
Innerchr12:105369480..105371871hg19UCSC Ensembl
Outerchr12:105368694..105374137hg19UCSC Ensembl
Innerchr12:103893610..103896001hg18UCSC Ensembl
Outerchr12:103892824..103898267hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg385444
hg195444
hg185444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511501
Supporting Variants
Samples1
Known Genes
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626119
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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