A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953347



Internal ID17302221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:17783084..17797283hg38UCSC Ensembl
Outerchr21:19155401..19169600hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3814200
hg1914200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000661
SamplesBILGI_BIOE
Known GenesC21orf91, C21orf91-OT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953347
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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