A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4552n100



Internal ID22790639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25293094..25522742hg38UCSC Ensembl
chr22:25689061..25918709hg19UCSC Ensembl
chr22:24019061..24248709hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38229649
hg19229649
hg18229649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056316, nsv1066259, nsv1067313, nsv1058822, nsv1063827, nsv1058142, nsv1065662, nsv1058192, nsv1055449
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4552n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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