A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2317655



Internal ID17880910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:46720830..46732711hg38UCSC Ensembl
Innerchr4:46722847..46734728hg19UCSC Ensembl
Innerchr4:46417604..46429485hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3811882
hg1911882
hg1811882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980201
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)nssv2317655
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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