A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998871



Internal ID17291823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46753538..46758737hg38UCSC Ensembl
Outerchr18:44333501..44338700hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953536
Supporting Variants
SamplesBILGI_BIOE
Known GenesST8SIA5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998871
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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