A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151710



Internal ID15878765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25598046hg38UCSC Ensembl
Innerchr22:25664408..25994013hg19UCSC Ensembl
Innerchr22:23994408..24324013hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38329606
hg19329606
hg18329606
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588805
Supporting Variants
SamplesHGDP01255
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151710
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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