A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7994n54



Internal ID20141418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20559470..21111491hg38UCSC Ensembl
chr22:20913757..21465780hg19UCSC Ensembl
chr22:19243757..19795780hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38552022
hg19552024
hg18552024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv588297, nsv588299
Samples
Known GenesAIFM3, BCRP2, CRKL, LOC400891, LZTR1, MED15, P2RX6, P2RX6P, PI4KA, POM121L4P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7994n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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