A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2245698



Internal ID17455911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17517344..17519224hg38UCSC Ensembl
Innerchr21:18889662..18891542hg19UCSC Ensembl
Innerchr21:17811533..17813413hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381881
hg191881
hg181881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964486
Supporting Variants
SamplesHGDP00778
Known GenesCXADR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2245698
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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