A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2238638



Internal ID17505818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:49134589..49135192hg38UCSC Ensembl
Innerchr20:47751126..47751729hg19UCSC Ensembl
Innerchr20:47184533..47185136hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965881
Supporting Variants
SamplesHGDP01029
Known GenesSTAU1
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)nssv2238638
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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