A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060587



Internal ID18803118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23576778..23637032hg38UCSC Ensembl
Innerchr22:23918965..23979219hg19UCSC Ensembl
Innerchr22:22248965..22309219hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3860255
hg1960255
hg1860255
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586522, nssv3733236, nssv3733237
Samples
Known GenesC22orf43, IGLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060587
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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