A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2242802



Internal ID17853712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10324328..10336253hg38UCSC Ensembl
Innerchr21:11176204..11188129hg19UCSC Ensembl
Innerchr21:10198075..10210123hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3811926
hg1911926
hg1812049
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962660
Supporting Variants
SamplesHGDP01029
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)nssv2242802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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