A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588619



Internal ID16029342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23637155hg38UCSC Ensembl
Innerchr22:23921427..23979342hg19UCSC Ensembl
Innerchr22:22251427..22309342hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3857916
hg1957916
hg1857916
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv952680, nssv952678, nssv1151833, nssv1151832, nssv952679
SamplesHGDP01089, HGDP01091
Known GenesC22orf43, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588619
Frequency
Sample Size17421
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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