A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2331360



Internal ID17818978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:110438410..110444624hg38UCSC Ensembl
Innerchr4:111359566..111365780hg19UCSC Ensembl
Innerchr4:111579015..111585229hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg386215
hg196215
hg186215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv980242
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2331360
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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