A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2033498



Internal ID17768067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82199019..82229213hg38UCSC Ensembl
Innerchr15:82491360..82521554hg19UCSC Ensembl
Innerchr15:80278415..80308609hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3830195
hg1930195
hg1830195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976956
Supporting Variants
SamplesHGDP00542
Known GenesEFTUD1
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)nssv2033498
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer