A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588770



Internal ID16029493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254439..25512474hg38UCSC Ensembl
Innerchr22:25650406..25908441hg19UCSC Ensembl
Innerchr22:23980406..24238441hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38258036
hg19258036
hg18258036
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8071n54
Supporting Variantsnssv1151630
SamplesNINDS_203
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)nsv588770
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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