A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2371237



Internal ID17880817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107194431..107195703hg38UCSC Ensembl
Innerchr5:106530132..106531404hg19UCSC Ensembl
Innerchr5:106558031..106559303hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg381273
hg191273
hg181273
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968230
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)nssv2371237
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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