A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116440



Internal ID21299706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:2653954..2657214hg38UCSC Ensembl
Innerchr18:2653953..2657213hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg383261
hg193261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100152
Samplessample289
Known GenesCBX3P2, SMCHD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116440
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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