A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063827



Internal ID19153046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25293094..25518106hg38UCSC Ensembl
Innerchr22:25689061..25914073hg19UCSC Ensembl
Innerchr22:24019061..24244073hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38225013
hg19225013
hg18225013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4552n100
Supporting Variantsnssv3600578
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)nsv1063827
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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