A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113214



Internal ID21296480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248596012..248630764hg38UCSC Ensembl
Innerchr1:248759313..248794065hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3834753
hg1934753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134n145
Supporting Variantsnssv14106269
Samplessample62
Known GenesOR2T11
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113214
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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