A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999322



Internal ID17292274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:128826755..128832854hg38UCSC Ensembl
Outerchr8:129839001..129845100hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951469
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999322
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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