A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151711



Internal ID15527063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25273614..25514700hg38UCSC Ensembl
Innerchr22:25669581..25910667hg19UCSC Ensembl
Innerchr22:23999581..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38241087
hg19241087
hg18241087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588816
Supporting Variants
SamplesHGDP00330
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)nssv1151711
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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