A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949990



Internal ID17298864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:133138457..133145556hg38UCSC Ensembl
Outerchr8:134150701..134157800hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg387100
hg197100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999330
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949990
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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