A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2527033



Internal ID17839405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:33674548..33676251hg38UCSC Ensembl
Innerchr9:33674546..33676249hg19UCSC Ensembl
Innerchr9:33664546..33666249hg18UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381704
hg191704
hg181704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968605
Supporting Variants
SamplesHGDP00998
Known GenesPTENP1
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)nssv2527033
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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