A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117656



Internal ID21300922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248574916..248632837hg38UCSC Ensembl
Innerchr1:248738217..248796138hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3857922
hg1957922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv133n145
Supporting Variantsnssv14095402, nssv14086797, nssv14106587
Samplessample82, sample326, sample207
Known GenesOR2T10, OR2T11
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117656
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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