A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2122129



Internal ID17471426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32129093..32130373hg38UCSC Ensembl
Innerchr18:29709056..29710336hg19UCSC Ensembl
Innerchr18:27963054..27964334hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381281
hg191281
hg181281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962874
Supporting Variants
SamplesHGDP00927
Known GenesRNF138
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)nssv2122129
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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