A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2113430



Internal ID17848230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9674592..9684443hg38UCSC Ensembl
Innerchr18:9674589..9684440hg19UCSC Ensembl
Innerchr18:9664589..9674440hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg389852
hg199852
hg189852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978600
Supporting Variants
SamplesHGDP01029
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)nssv2113430
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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