A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2125855



Internal ID17799777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:60661861..60666904hg38UCSC Ensembl
Innerchr18:58329094..58334137hg19UCSC Ensembl
Innerchr18:56480074..56485117hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg385044
hg195044
hg185044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962885
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)nssv2125855
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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