A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953339



Internal ID17302213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:13972680..13975279hg38UCSC Ensembl
Outerchr21:15345001..15347600hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000653
SamplesBILGI_BIOE
Known GenesANKRD20A11P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953339
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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