A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2563193



Internal ID17439509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:105709167..105710527hg38UCSC Ensembl
Innerchr9:108471448..108472808hg19UCSC Ensembl
Innerchr9:107511269..107512629hg18UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg381361
hg191361
hg181361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968742
Supporting Variants
SamplesHGDP00665
Known GenesTMEM38B
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)nssv2563193
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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