A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2120838



Internal ID17402428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:20951677..20958442hg38UCSC Ensembl
Innerchr18:18531638..18538403hg19UCSC Ensembl
Innerchr18:16785636..16792401hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg386766
hg196766
hg186766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960270
Supporting Variants
SamplesHGDP00521
Known GenesROCK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2120838
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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