A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2325399



Internal ID17753220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:85246389..85249103hg38UCSC Ensembl
Innerchr4:86167542..86170256hg19UCSC Ensembl
Innerchr4:86386566..86389280hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg382715
hg192715
hg182715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967769
Supporting Variants
SamplesHGDP00521
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)nssv2325399
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