A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2282020



Internal ID17818772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:61742120..61743432hg38UCSC Ensembl
Innerchr3:61727794..61729106hg19UCSC Ensembl
Innerchr3:61702834..61704146hg18UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg381313
hg191313
hg181313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979838
Supporting Variants
SamplesHGDP00927
Known GenesPTPRG
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)nssv2282020
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