A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518002



Internal ID15098609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:14543393..14702502hg38UCSC Ensembl
InnerchrX:14561515..14720624hg19UCSC Ensembl
InnerchrX:14471436..14630545hg18UCSC Ensembl
InnerchrX:14321172..14480281hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg38159110
hg19159110
hg18159110
hg17159110
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695414
Samples
Known GenesGLRA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518002
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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