A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519268



Internal ID15099875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:34474253..34646918hg38UCSC Ensembl
InnerchrX:34492370..34665035hg19UCSC Ensembl
InnerchrX:34402291..34574956hg18UCSC Ensembl
InnerchrX:34252027..34424692hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg38172666
hg19172666
hg18172666
hg17172666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696757
Samples
Known GenesTMEM47
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519268
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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