A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1816057



Internal ID17760599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203022875..203023873hg38UCSC Ensembl
Innerchr1:202992003..202993001hg19UCSC Ensembl
Innerchr1:201258626..201259624hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946592
Supporting Variants
SamplesHGDP00542
Known GenesTMEM183A, TMEM183B
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)nssv1816057
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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