A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2241417



Internal ID17537278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57483981..57489084hg38UCSC Ensembl
Innerchr20:56059037..56064140hg19UCSC Ensembl
Innerchr20:55492443..55497546hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg385104
hg195104
hg185104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964413
Supporting Variants
SamplesHGDP01307
Known Genes
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)nssv2241417
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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