A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2013157



Internal ID17434996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25338457..25339205hg38UCSC Ensembl
Innerchr15:25583604..25584352hg19UCSC Ensembl
Innerchr15:23134697..23135445hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976900
Supporting Variants
SamplesHGDP00665
Known GenesUBE3A
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)nssv2013157
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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