A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2091852



Internal ID17408270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31937597..31952396hg38UCSC Ensembl
Innerchr17:30264616..30279415hg19UCSC Ensembl
Innerchr17:27288729..27303528hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814800
hg1914800
hg1814800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960463
Supporting Variants
SamplesHGDP00521
Known GenesSUZ12
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)nssv2091852
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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