A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2114571



Internal ID17866024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11920675..11929410hg38UCSC Ensembl
Innerchr18:11920674..11929409hg19UCSC Ensembl
Innerchr18:11910674..11919409hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg388736
hg198736
hg188736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962489
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)nssv2114571
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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