A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2502877



Internal ID17870391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:47585246..47595344hg38UCSC Ensembl
Innerchr8:48497808..48507906hg19UCSC Ensembl
Innerchr8:48660361..48670459hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3810099
hg1910099
hg1810099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971650
Supporting Variants
SamplesHGDP01284
Known GenesSPIDR
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)nssv2502877
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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