A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600883



Internal ID18552478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38729494..38774287hg38UCSC Ensembl
Innerchr22:39125499..39170292hg19UCSC Ensembl
Innerchr22:37455445..37500238hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3844794
hg1944794
hg1844794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060365
Supporting Variants
Samples
Known GenesGTPBP1, SUN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600883
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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