A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2356947



Internal ID17776853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:62775202..62777735hg38UCSC Ensembl
Innerchr5:62071029..62073562hg19UCSC Ensembl
Innerchr5:62106785..62109318hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382534
hg192534
hg182534
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964863
Supporting Variants
SamplesHGDP00665
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)nssv2356947
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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