A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1964068



Internal ID17768201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52687760..52688523hg38UCSC Ensembl
Innerchr13:53261895..53262658hg19UCSC Ensembl
Innerchr13:52159896..52160659hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974092
Supporting Variants
SamplesHGDP00542
Known GenesSUGT1
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)nssv1964068
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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