A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588772



Internal ID16029495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254439..25514700hg38UCSC Ensembl
Innerchr22:25650406..25910667hg19UCSC Ensembl
Innerchr22:23980406..24240667hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38260262
hg19260262
hg18260262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151635, nssv1151637, nssv1151636, nssv954369, nssv1151638
Samples1787431167_A, HGDP00815, NINDS_225, HGDP01245
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)nsv588772
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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