A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2247335



Internal ID17814732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32840444..32842431hg38UCSC Ensembl
Innerchr21:34212754..34214741hg19UCSC Ensembl
Innerchr21:33134624..33136611hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381988
hg191988
hg181988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964492
Supporting Variants
SamplesHGDP00927
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)nssv2247335
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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