A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117439



Internal ID21300705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:152810963..152935816hg38UCSC Ensembl
InnerchrX:151979495..152104360hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38124854
hg19124866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14101785
Samplessample371
Known GenesCETN2, NSDHL, ZNF185
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117439
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