A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512662



Internal ID15852087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48667521..48669440hg38UCSC Ensembl
Outerchr22:49063333..49065252hg19UCSC Ensembl
Outerchr22:47449769..47451688hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381920
hg191920
hg181920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625281
Samples1
Known GenesFAM19A5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512662
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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