A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587369



Internal ID18538964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20135385..20262667hg38UCSC Ensembl
Innerchr22:20122908..20250190hg19UCSC Ensembl
Innerchr22:18502908..18630190hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38127283
hg19127283
hg18127283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062334
Supporting Variants
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)nssv3587369
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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