A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2007127



Internal ID17883766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23123715..23174491hg38UCSC Ensembl
Innerchr15:23390462..23452243hg19UCSC Ensembl
Innerchr15:20941903..21003684hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3850777
hg1961782
hg1861782
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv976888
Supporting Variants
SamplesHGDP01307
Known GenesGOLGA8EP, HERC2P7
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)nssv2007127
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