A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2040593



Internal ID17768415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101955269..101969546hg38UCSC Ensembl
Innerchr15:102495472..102509749hg19UCSC Ensembl
Innerchr15:100312995..100327272hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3814278
hg1914278
hg1814278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv977765
Supporting Variants
SamplesHGDP00542
Known GenesFAM138E, WASH3P
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2040593
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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