A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105042



Internal ID21273821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31434684..31436654hg38UCSC Ensembl
InnerchrX:31452801..31454771hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110225
Supporting Variants
Samplessample197
Known GenesDMD
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105042
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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