A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512370



Internal ID8819674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94362618..94378920hg38UCSC Ensembl
Outerchr14:94828955..94845257hg19UCSC Ensembl
Outerchr14:93898708..93915010hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg3816303
hg1916303
hg1816303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624957
Samples1
Known GenesSERPINA1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512370
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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