A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1796750



Internal ID17483961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151549400..151557785hg38UCSC Ensembl
Innerchr1:151521876..151530261hg19UCSC Ensembl
Innerchr1:149788500..149796885hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg388386
hg198386
hg188386
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946387
Supporting Variants
SamplesHGDP00998
Known GenesTUFT1
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)nssv1796750
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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