A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2247534



Internal ID17435496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32428185..32440763hg38UCSC Ensembl
Innerchr21:33800493..33813071hg19UCSC Ensembl
Innerchr21:32722364..32734942hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3812579
hg1912579
hg1812579
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962671
Supporting Variants
SamplesHGDP00665
Known GenesEVA1C
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)nssv2247534
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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