A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517937



Internal ID15098544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:100982949..101015369hg38UCSC Ensembl
InnerchrX:100237938..100270358hg19UCSC Ensembl
InnerchrX:100124594..100157014hg18UCSC Ensembl
InnerchrX:100044083..100076503hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3832421
hg1932421
hg1832421
hg1732421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695349
Samples
Known GenesARL13A, TRMT2B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517937
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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