A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2343274



Internal ID17472434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189870057..190105074hg38UCSC Ensembl
Innerchr4:190791212..191026229hg19UCSC Ensembl
Innerchr4:191028206..191260210hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38235018
hg19235018
hg18232005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964128
Supporting Variants
SamplesHGDP00927
Known GenesDUX2, DUX4, DUX4L2, DUX4L3, DUX4L4, DUX4L5, DUX4L6, DUX4L7, FRG1, FRG2, LOC100288255, LOC100653046, LOC283788
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)nssv2343274
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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