A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588314



Internal ID16375723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21363831..21417707hg38UCSC Ensembl
Innerchr22:21718120..21771996hg19UCSC Ensembl
Innerchr22:20048120..20101996hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3853877
hg1953877
hg1853877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7996n54
Supporting Variantsnssv951963
Samples
Known GenesHIC2, RIMBP3B, RIMBP3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588314
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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