A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111193



Internal ID21294459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:31434684..31436560hg38UCSC Ensembl
InnerchrX:31452801..31454677hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1263n145
Supporting Variantsnssv14105089, nssv14101749, nssv14104045
Samplessample346, sample18, sample234
Known GenesDMD
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111193
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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