A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2113526



Internal ID17770053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:10604839..10610351hg38UCSC Ensembl
Innerchr18:10604836..10610348hg19UCSC Ensembl
Innerchr18:10594836..10600348hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg385513
hg195513
hg185513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv962486
Supporting Variants
SamplesHGDP00542
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)nssv2113526
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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