A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519741



Internal ID15100348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:70190042..70238897hg38UCSC Ensembl
InnerchrX:69409892..69458747hg19UCSC Ensembl
InnerchrX:69326617..69375472hg18UCSC Ensembl
InnerchrX:69192913..69241768hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3848856
hg1948856
hg1848856
hg1748856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697023
Samples
Known GenesAWAT1, DGAT2L6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519741
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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