A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268978



Internal ID17765027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45177661..45179482hg38UCSC Ensembl
Innerchr22:45573542..45575363hg19UCSC Ensembl
Innerchr22:43952206..43954027hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381822
hg191822
hg181822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979687
Supporting Variants
SamplesHGDP00542
Known GenesNUP50
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)nssv2268978
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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