A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1830813



Internal ID17480553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:16694..88760hg38UCSC Ensembl
Innerchr10:62633..134700hg19UCSC Ensembl
Innerchr10:52633..124700hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3872067
hg1972068
hg1872068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947724
Supporting Variants
SamplesHGDP00998
Known GenesTUBB8
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)nssv1830813
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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