A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2495442



Internal ID17747773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17229359..17230462hg38UCSC Ensembl
Innerchr8:17086868..17087971hg19UCSC Ensembl
Innerchr8:17131239..17132342hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381104
hg191104
hg181104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981916
Supporting Variants
SamplesHGDP00521
Known GenesCNOT7
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)nssv2495442
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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