A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2228404



Internal ID17386134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1369157..1370624hg38UCSC Ensembl
Innerchr20:1349801..1351268hg19UCSC Ensembl
Innerchr20:1297801..1299268hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381468
hg191468
hg181468
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979410
Supporting Variants
SamplesHGDP00456
Known GenesFKBP1A, FKBP1A-SDCBP2, SDCBP2-AS1
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)nssv2228404
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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