A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2117211



Internal ID17751504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14362872..14430234hg38UCSC Ensembl
Innerchr18:14362871..14430233hg19UCSC Ensembl
Innerchr18:14352871..14420233hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3867363
hg1967363
hg1867363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960658
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)nssv2117211
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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