A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2278992



Internal ID17518658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43037611..43038712hg38UCSC Ensembl
Innerchr3:43079103..43080204hg19UCSC Ensembl
Innerchr3:43054107..43055208hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg381102
hg191102
hg181102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979824
Supporting Variants
SamplesHGDP01284
Known GenesFAM198A
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)nssv2278992
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