A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513220



Internal ID15852642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:10574018..10577465hg38UCSC Ensembl
Outerchr5:10574130..10577577hg19UCSC Ensembl
Outerchr5:10627130..10630577hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg383448
hg193448
hg183448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv626723
Samples1
Known GenesANKRD33B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513220
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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