A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231352



Internal ID17835469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:23662406..23670640hg38UCSC Ensembl
Innerchr20:23643043..23651277hg19UCSC Ensembl
Innerchr20:23591043..23599277hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg388235
hg198235
hg188235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979417
Supporting Variants
SamplesHGDP00998
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)nssv2231352
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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