A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512564



Internal ID15505303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12642459..12643928hg38UCSC Ensembl
Outerchr19:12753273..12754742hg19UCSC Ensembl
Outerchr19:12614273..12615742hg18UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625172
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512564
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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