A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2264351



Internal ID17754152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32357883..32359212hg38UCSC Ensembl
Innerchr22:32753870..32755199hg19UCSC Ensembl
Innerchr22:31083870..31085199hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381330
hg191330
hg181330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979671
Supporting Variants
SamplesHGDP00521
Known GenesRFPL3
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)nssv2264351
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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