A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2126145



Internal ID17750608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:62415336..62416068hg38UCSC Ensembl
Innerchr18:60082569..60083301hg19UCSC Ensembl
Innerchr18:58233549..58234281hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38733
hg19733
hg18733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961056
Supporting Variants
SamplesHGDP00521
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)nssv2126145
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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