A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2566644



Internal ID17786083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:122837716..122838716hg38UCSC Ensembl
Innerchr9:125599995..125600995hg19UCSC Ensembl
Innerchr9:124639816..124640816hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982344
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)nssv2566644
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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