A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2372232



Internal ID17752149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112891766..112893513hg38UCSC Ensembl
Innerchr5:112227463..112229210hg19UCSC Ensembl
Innerchr5:112255362..112257109hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg381748
hg191748
hg181748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968976
Supporting Variants
SamplesHGDP00521
Known GenesREEP5, SRP19
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)nssv2372232
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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