A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113385



Internal ID21296651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:86662144..87528777hg38UCSC Ensembl
InnerchrX:85917147..86783780hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg38866634
hg19866634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14104983
Samplessample157
Known GenesDACH2, KLHL4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113385
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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