A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2249064



Internal ID17801741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39489929..39491762hg38UCSC Ensembl
Innerchr21:40861855..40863688hg19UCSC Ensembl
Innerchr21:39783725..39785558hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381834
hg191834
hg181834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964496
Supporting Variants
SamplesHGDP00778
Known GenesSH3BGR
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)nssv2249064
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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