A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588781



Internal ID16029504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25265758..25514588hg38UCSC Ensembl
Innerchr22:25661725..25910555hg19UCSC Ensembl
Innerchr22:23991725..24240555hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38248831
hg19248831
hg18248831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151648, nssv1151649, nssv1151647
SamplesHGDP00580, HGDP00423, HGDP00880
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)nsv588781
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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