A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518742



Internal ID15099349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:149494621..149681127hg38UCSC Ensembl
InnerchrX:148576152..148762795hg19UCSC Ensembl
InnerchrX:148384057..148604219hg18UCSC Ensembl
InnerchrX:148281911..148502073hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg38186507
hg19186644
hg18220163
hg17220163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696192
Samples
Known GenesCXorf40A, HSFX1, HSFX2, IDS, LINC00893, MAGEA11, MAGEA9, MAGEA9B, TMEM185A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518742
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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