A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2246545



Internal ID17787736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18857747..18860115hg38UCSC Ensembl
Innerchr21:20230065..20232433hg19UCSC Ensembl
Innerchr21:19151936..19154304hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382369
hg192369
hg182369
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965974
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2246545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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