A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520052



Internal ID15447345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:33191063..33214257hg38UCSC Ensembl
InnerchrX:33209180..33232374hg19UCSC Ensembl
InnerchrX:33119101..33142295hg18UCSC Ensembl
InnerchrX:32968837..32992031hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3823195
hg1923195
hg1823195
hg1723195
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv660319, nssv681427
Samples
Known GenesDMD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520052
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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