A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2327542



Internal ID17406474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88521147..88521989hg38UCSC Ensembl
Innerchr4:89442298..89443140hg19UCSC Ensembl
Innerchr4:89661321..89662163hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980229
Supporting Variants
SamplesHGDP00521
Known GenesPIGY, PYURF
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)nssv2327542
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