A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625194



Internal ID15848730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:45775339..45776474hg38UCSC Ensembl
Outerchr19:46278597..46279732hg19UCSC Ensembl
Outerchr19:50970437..50971572hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381136
hg191136
hg181136
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512584
Supporting Variants
Samples1
Known GenesDMPK
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625194
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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