A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055450



Internal ID18797981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31960163..32072845hg38UCSC Ensembl
Innerchr22:32356150..32468832hg19UCSC Ensembl
Innerchr22:30686150..30798832hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38112683
hg19112683
hg18112683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4559n100
Supporting Variantsnssv3600811
Samples
Known GenesSLC5A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055450
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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