A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117589



Internal ID21300855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:72304448..72308471hg38UCSC Ensembl
InnerchrX:71524298..71528321hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg384024
hg194024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1268n145
Supporting Variantsnssv14105106
Samplessample246
Known GenesCITED1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117589
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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