A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114709



Internal ID17866284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9020290..9022797hg38UCSC Ensembl
Innerchr18:9020288..9022795hg19UCSC Ensembl
Innerchr18:9010288..9012795hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg382508
hg192508
hg182508
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960250
Supporting Variants
SamplesHGDP01284
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)nssv2114709
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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