A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064757



Internal ID18807288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20069620..20262667hg38UCSC Ensembl
Innerchr22:20057143..20250190hg19UCSC Ensembl
Innerchr22:18437143..18630190hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38193048
hg19193048
hg18193048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4480n100
Supporting Variantsnssv3587359
Samples
Known GenesDGCR8, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR3618, MIR6816, RANBP1, RTN4R, TRMT2A, ZDHHC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064757
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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