A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998870



Internal ID16945136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46217135..46225234hg38UCSC Ensembl
Outerchr18:43797101..43805200hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg388100
hg198100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953535
Supporting Variants
SamplesBILGI_BIOE
Known GenesC18orf25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998870
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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