A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114058



Internal ID21297324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220473707..220479483hg38UCSC Ensembl
Innerchr1:220647049..220652825hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385777
hg195777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114n145
Supporting Variantsnssv14109215, nssv14102684
Samplessample147, sample418
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114058
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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