A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512672



Internal ID15505411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32968705..32971298hg38UCSC Ensembl
OuterchrX:32986822..32989415hg19UCSC Ensembl
OuterchrX:32896743..32899336hg18UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg382594
hg192594
hg182594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625292
Samples1
Known GenesDMD
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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