A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588798



Internal ID16376207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514469hg38UCSC Ensembl
Innerchr22:25664408..25910436hg19UCSC Ensembl
Innerchr22:23994408..24240436hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246029
hg19246029
hg18246029
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8075n54
Supporting Variantsnssv954411, nssv954412, nssv954410
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588798
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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