A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512425



Internal ID15505164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13200519..13202726hg38UCSC Ensembl
Outerchr16:13294376..13296583hg19UCSC Ensembl
Outerchr16:13201877..13204084hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg382208
hg192208
hg182208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625017
Samples1
Known GenesSHISA9
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512425
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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