A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521560



Internal ID15102167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:64063724..64245972hg38UCSC Ensembl
InnerchrX:63283604..63465852hg19UCSC Ensembl
InnerchrX:63200329..63382577hg18UCSC Ensembl
InnerchrX:63066625..63248873hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38182249
hg19182249
hg18182249
hg17182249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698175
Samples
Known GenesAMER1, ASB12
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521560
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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