A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519795



Internal ID15100402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:126124167..126251354hg38UCSC Ensembl
InnerchrX:125258150..125385337hg19UCSC Ensembl
InnerchrX:125085831..125213018hg18UCSC Ensembl
InnerchrX:124983685..125110872hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38127188
hg19127188
hg18127188
hg17127188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697056
Samples
Known GenesDCAF12L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519795
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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