A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516365



Internal ID8410640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:38263654..38273375hg38UCSC Ensembl
InnerchrX:38122907..38132628hg19UCSC Ensembl
InnerchrX:38007851..38017572hg18UCSC Ensembl
InnerchrX:37879124..37888845hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg389722
hg199722
hg189722
hg179722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv678629, nssv667785
Samples
Known GenesRPGR
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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