A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2231648



Internal ID17753294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21485674..21488222hg38UCSC Ensembl
Innerchr20:21466312..21468860hg19UCSC Ensembl
Innerchr20:21414312..21416860hg18UCSC Ensembl
Cytoband20p11.22
Allele length
AssemblyAllele length
hg382549
hg192549
hg182549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962560
Supporting Variants
SamplesHGDP00521
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)nssv2231648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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