A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2248348



Internal ID17486975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32496704..32510712hg38UCSC Ensembl
Innerchr21:33869014..33883022hg19UCSC Ensembl
Innerchr21:32790885..32804893hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3814009
hg1914009
hg1814009
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979532
Supporting Variants
SamplesHGDP00998
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)nssv2248348
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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