A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512617



Internal ID15852042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43642772..43646303hg38UCSC Ensembl
Outerchr20:42271412..42274943hg19UCSC Ensembl
Outerchr20:41704826..41708357hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383532
hg193532
hg183532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625230
Samples1
Known GenesIFT52
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512617
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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