A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950394



Internal ID17299268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132769409..132778608hg38UCSC Ensembl
Outerchr5:132105101..132114300hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997827
SamplesBILGI_BIOE
Known GenesSEPT8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950394
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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