A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517350



Internal ID15444643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48026897..48204340hg38UCSC Ensembl
InnerchrX:47886291..48063776hg19UCSC Ensembl
InnerchrX:47771235..47948720hg18UCSC Ensembl
InnerchrX:47642545..47820030hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38177444
hg19177486
hg18177486
hg17177486
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658085, nssv684897, nssv656156, nssv688499, nssv662975, nssv689301, nssv677334, nssv680255, nssv705846, nssv685235, nssv675191, nssv669207, nssv654657, nssv673817, nssv651801, nssv657289, nssv671958, nssv692141, nssv666579, nssv688540, nssv656738, nssv690490, nssv666444, nssv690173, nssv661035, nssv666843, nssv683792, nssv675807, nssv658369, nssv694514, nssv673217, nssv692574, nssv660949, nssv682617, nssv664666, nssv665196, nssv686753, nssv666331, nssv662067, nssv659911
Samples
Known GenesSPACA5, SPACA5B, SSX5, SSX6, ZNF630
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517350
Frequency
Sample Size2026
Observed Gain15
Observed Loss25
Observed Complex0
Frequencyn/a


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