A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588767



Internal ID16376176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25244661..25514700hg38UCSC Ensembl
Innerchr22:25640628..25910667hg19UCSC Ensembl
Innerchr22:23970628..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38270040
hg19270040
hg18270040
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954365, nssv1151626, nssv1151628, nssv1151627
SamplesNINDS_169, HGDP01259, HGDP01228
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588767
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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