A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120155



Internal ID17859496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26198256..26205986hg38UCSC Ensembl
Innerchr18:23778220..23785950hg19UCSC Ensembl
Innerchr18:22032218..22039948hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387731
hg197731
hg187731
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961037
Supporting Variants
SamplesHGDP01284
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)nssv2120155
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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