A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521227



Internal ID15448520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:48052481..48235711hg38UCSC Ensembl
InnerchrX:47911871..48095146hg19UCSC Ensembl
InnerchrX:47796815..47980090hg18UCSC Ensembl
InnerchrX:47668125..47851400hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38183231
hg19183276
hg18183276
hg17183276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697857
Samples
Known GenesSPACA5, SPACA5B, SSX5, SSX6, ZNF630
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521227
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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