A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2111380



Internal ID17848704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2840944..2842270hg38UCSC Ensembl
Innerchr18:2840942..2842268hg19UCSC Ensembl
Innerchr18:2830942..2832268hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg381327
hg191327
hg181327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv962480
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2111380
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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