A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111534



Internal ID21294800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:64895117..64898693hg38UCSC Ensembl
Innerchr1:65360800..65364376hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv27n145
Supporting Variantsnssv14093983, nssv14097366
Samplessample140, sample32
Known GenesJAK1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111534
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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