A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513144



Internal ID15505880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87346775..87353261hg38UCSC Ensembl
Outerchr4:88267927..88274413hg19UCSC Ensembl
Outerchr4:88486951..88493437hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386487
hg196487
hg186487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626638
Samples1
Known GenesHSD17B11
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513144
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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