A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2316913



Internal ID17804409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49271346..49331395hg38UCSC Ensembl
Innerchr4:49273363..49333412hg19UCSC Ensembl
Innerchr4:48968120..49028169hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3860050
hg1960050
hg1860050
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967746
Supporting Variants
SamplesHGDP00778
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)nssv2316913
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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