A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3590806



Internal ID18542401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40725180..40776833hg38UCSC Ensembl
Innerchr22:41121184..41172837hg19UCSC Ensembl
Innerchr22:39451130..39502783hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3851654
hg1951654
hg1851654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066802
Supporting Variants
Samples
Known GenesSLC25A17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3590806
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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