A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329848



Internal ID17514090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:108649604..108650860hg38UCSC Ensembl
Innerchr4:109570760..109572016hg19UCSC Ensembl
Innerchr4:109790209..109791465hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381257
hg191257
hg181257
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964080
Supporting Variants
SamplesHGDP01284
Known GenesOSTC
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)nssv2329848
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