A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951447



Internal ID17300321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:80022266..80026665hg38UCSC Ensembl
Outerchr8:80934501..80938900hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999300
SamplesBILGI_BIOE
Known GenesMRPS28
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951447
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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