A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2501657



Internal ID17540039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:43084613..43085832hg38UCSC Ensembl
Innerchr8:42939756..42940975hg19UCSC Ensembl
Innerchr8:43058913..43060132hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381220
hg191220
hg181220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967584
Supporting Variants
SamplesHGDP01307
Known GenesFNTA
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)nssv2501657
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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