A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512289



Internal ID15851714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95839280..95842659hg38UCSC Ensembl
Outerchr12:96233058..96236437hg19UCSC Ensembl
Outerchr12:94757189..94760568hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383380
hg193380
hg183380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624867
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512289
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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