A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2343359



Internal ID17852422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184548561..184553623hg38UCSC Ensembl
Innerchr4:185469715..185474777hg19UCSC Ensembl
Innerchr4:185706709..185711771hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385063
hg195063
hg185063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967820
Supporting Variants
SamplesHGDP01029
Known Genes
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)nssv2343359
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