A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2241299



Internal ID17800739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57358516..57361403hg38UCSC Ensembl
Innerchr20:55933572..55936459hg19UCSC Ensembl
Innerchr20:55366979..55369866hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg382888
hg192888
hg182888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965892
Supporting Variants
SamplesHGDP00778
Known GenesMIR5095, MTRNR2L3, RAE1
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)nssv2241299
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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