A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953499



Internal ID16955686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102418141..102431540hg38UCSC Ensembl
Outerchr2:103034601..103048000hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3813400
hg1913400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001844
SamplesBILGI_BIOE
Known GenesIL18RAP
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953499
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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