A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588834



Internal ID16376243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25327333..25510836hg38UCSC Ensembl
Innerchr22:25723300..25906803hg19UCSC Ensembl
Innerchr22:24053300..24236803hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38183504
hg19183504
hg18183504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8078n54
Supporting Variantsnssv1151722
SamplesHGDP00023
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588834
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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