A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513514



Internal ID15506250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8422834..8423028hg38UCSC Ensembl
Outerchr19:8487718..8487912hg19UCSC Ensembl
Outerchr19:8393718..8393912hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625927
Samples1
Known GenesMARCH2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513514
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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