A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512300



Internal ID15505039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132211920..132214091hg38UCSC Ensembl
Outerchr12:132696465..132698636hg19UCSC Ensembl
Outerchr12:131262418..131264589hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382172
hg192172
hg182172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624879
Samples1
Known GenesGALNT9
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512300
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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