A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2237620



Internal ID17862012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46388474..46389190hg38UCSC Ensembl
Innerchr20:45017113..45017829hg19UCSC Ensembl
Innerchr20:44450520..44451236hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38717
hg19717
hg18717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979434
Supporting Variants
SamplesHGDP01284
Known GenesELMO2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2237620
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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