A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588320



Internal ID16375729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21393389..21417759hg38UCSC Ensembl
Innerchr22:21747678..21772048hg19UCSC Ensembl
Innerchr22:20077678..20102048hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3824371
hg1924371
hg1824371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv951971
Samples
Known GenesHIC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588320
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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