A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2502265



Internal ID17876633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46971119..46976905hg38UCSC Ensembl
Innerchr8:47882742..47888528hg19UCSC Ensembl
Innerchr8:48001907..48007693hg18UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg385787
hg195787
hg185787
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971645
Supporting Variants
SamplesHGDP01307
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)nssv2502265
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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