A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1848861



Internal ID17481445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49909512..49910159hg38UCSC Ensembl
Innerchr10:51117558..51118205hg19UCSC Ensembl
Innerchr10:50787564..50788211hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947985
Supporting Variants
SamplesHGDP00998
Known GenesPARG
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)nssv1848861
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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