A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101779



Internal ID21284628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:138931457..139077985hg38UCSC Ensembl
InnerchrX:138013619..138160147hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg38146529
hg19146529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113961
Supporting Variants
Samplessample363
Known GenesFGF13
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101779
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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