A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624858



Internal ID15848394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:68861389..68864572hg38UCSC Ensembl
Outerchr12:69255169..69258352hg19UCSC Ensembl
Outerchr12:67541436..67544619hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg383184
hg193184
hg183184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512281
Supporting Variants
Samples1
Known GenesCPM
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv624858
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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