A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516365



Internal ID6012657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:38122907..38132628hg19UCSC Ensembl
InnerchrX:38007851..38017572hg18UCSC Ensembl
InnerchrX:37879124..37888845hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv678629, nssv667785
Samples
Known GenesRPGR
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516365
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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