A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058133



Internal ID18800664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20135385..20272531hg38UCSC Ensembl
Innerchr22:20122908..20260054hg19UCSC Ensembl
Innerchr22:18502908..18640054hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38137147
hg19137147
hg18137147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4481n100
Supporting Variantsnssv3587370, nssv3587371
Samples
Known GenesLINC00896, LOC284865, LOC388849, MIR1286, RTN4R, ZDHHC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058133
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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