A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2500739



Internal ID17537867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:41510885..41513411hg38UCSC Ensembl
Innerchr8:41368404..41370930hg19UCSC Ensembl
Innerchr8:41487561..41490087hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382527
hg192527
hg182527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981931
Supporting Variants
SamplesHGDP01307
Known GenesGOLGA7
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)nssv2500739
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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