A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2227558



Internal ID17818226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1603514..1605661hg38UCSC Ensembl
Innerchr20:1584160..1586307hg19UCSC Ensembl
Innerchr20:1532160..1534307hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382148
hg192148
hg182148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965841
Supporting Variants
SamplesHGDP00927
Known GenesSIRPB1
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)nssv2227558
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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