A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2113327



Internal ID17753028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9536421..9537705hg38UCSC Ensembl
Innerchr18:9536419..9537703hg19UCSC Ensembl
Innerchr18:9526419..9527703hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381285
hg191285
hg181285
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962485
Supporting Variants
SamplesHGDP00521
Known GenesRALBP1
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)nssv2113327
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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