A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2127036



Internal ID17731006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:72617543..72619738hg38UCSC Ensembl
Innerchr18:70284778..70286973hg19UCSC Ensembl
Innerchr18:68435758..68437953hg18UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg382196
hg192196
hg182196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962887
Supporting Variants
SamplesHGDP00456
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)nssv2127036
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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