A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2206429



Internal ID17782938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138278598..138280008hg38UCSC Ensembl
Innerchr2:139036168..139037578hg19UCSC Ensembl
Innerchr2:138752638..138754048hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381411
hg191411
hg181411
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963730
Supporting Variants
SamplesHGDP00665
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)nssv2206429
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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