A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056316



Internal ID19145535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25308251..25514777hg38UCSC Ensembl
Innerchr22:25704218..25910744hg19UCSC Ensembl
Innerchr22:24034218..24240744hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38206527
hg19206527
hg18206527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4552n100
Supporting Variantsnssv3600650
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)nsv1056316
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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