A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998881



Internal ID17291833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54116631..54120430hg38UCSC Ensembl
Outerchr18:51643001..51646800hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953546
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998881
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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