A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2317462



Internal ID17772523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:43408955..43419746hg38UCSC Ensembl
Innerchr4:43410972..43421763hg19UCSC Ensembl
Innerchr4:43105729..43116520hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3810792
hg1910792
hg1810792
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964042
Supporting Variants
SamplesHGDP00542
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)nssv2317462
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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