A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117329



Internal ID21300595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43511136..43520840hg38UCSC Ensembl
Innerchr2:43738275..43747979hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg389705
hg199705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102442
Samplessample47
Known GenesTHADA
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117329
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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