A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517960



Internal ID15445253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:24731742..24963856hg38UCSC Ensembl
InnerchrX:24749859..24981973hg19UCSC Ensembl
InnerchrX:24659780..24891894hg18UCSC Ensembl
InnerchrX:24509516..24741630hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg38232115
hg19232115
hg18232115
hg17232115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695373
Samples
Known GenesPOLA1, SCARNA23
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517960
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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