A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954820



Internal ID17303693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201257578..201268377hg38UCSC Ensembl
Outerchr2:202122301..202133100hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3810800
hg1910800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003103
SamplesBILGI_BIOE
Known GenesCASP8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954820
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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