A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101839



Internal ID21287732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:103343474..103404942hg38UCSC Ensembl
InnerchrX:102598402..102659870hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3861469
hg1961469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3114458
Supporting Variants
Samplessample406
Known GenesNGFRAP1, WBP5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101839
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer