A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2011973



Internal ID17820040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25370685..25372079hg38UCSC Ensembl
Innerchr15:25615832..25617226hg19UCSC Ensembl
Innerchr15:23166925..23168319hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381395
hg191395
hg181395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984032
Supporting Variants
SamplesHGDP00927
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)nssv2011973
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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