A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2229125



Internal ID17838243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14590491..14591205hg38UCSC Ensembl
Innerchr20:14571137..14571851hg19UCSC Ensembl
Innerchr20:14519137..14519851hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38715
hg19715
hg18715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962559
Supporting Variants
SamplesHGDP00998
Known GenesMACROD2, MACROD2-IT1
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)nssv2229125
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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