A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2118780



Internal ID17886572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14878824..14883874hg38UCSC Ensembl
Innerchr18:14878823..14883873hg19UCSC Ensembl
Innerchr18:14868823..14873873hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg385051
hg195051
hg185051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978616
Supporting Variants
SamplesHGDP01307
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)nssv2118780
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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