A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520416



Internal ID15101023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:70190042..70244558hg38UCSC Ensembl
InnerchrX:69409892..69464408hg19UCSC Ensembl
InnerchrX:69326617..69381133hg18UCSC Ensembl
InnerchrX:69192913..69247429hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3854517
hg1954517
hg1854517
hg1754517
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697403
Samples
Known GenesAWAT1, DGAT2L6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520416
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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