A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120876



Internal ID17766315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:21118156..21123592hg38UCSC Ensembl
Innerchr18:18698117..18703553hg19UCSC Ensembl
Innerchr18:16952115..16957551hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg385437
hg195437
hg185437
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960271
Supporting Variants
SamplesHGDP00542
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)nssv2120876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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