A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2123509



Internal ID17820136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49486706..49491456hg38UCSC Ensembl
Innerchr18:47013076..47017826hg19UCSC Ensembl
Innerchr18:45267074..45271824hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384751
hg194751
hg184751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978629
Supporting Variants
SamplesHGDP00927
Known GenesC18orf32, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58C
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)nssv2123509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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