A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2244242



Internal ID17728608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13803362..14001586hg38UCSC Ensembl
Innerchr21:15175683..15373907hg19UCSC Ensembl
Innerchr21:14097554..14295778hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38198225
hg19198225
hg18198225
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965971
Supporting Variants
SamplesHGDP00456
Known GenesANKRD20A11P, C21orf15
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)nssv2244242
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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