A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112417



Internal ID21295683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71817522..71826176hg38UCSC Ensembl
Innerchr1:72283205..72291859hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388655
hg198655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14097643
Samplessample370
Known GenesNEGR1, NEGR1-IT1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112417
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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