A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953317



Internal ID17302191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8595468..8706667hg38UCSC Ensembl
Outerchr21:9484301..9595500hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38111200
hg19111200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000027
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953317
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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