A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588796



Internal ID16376205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25513844hg38UCSC Ensembl
Innerchr22:25664408..25909811hg19UCSC Ensembl
Innerchr22:23994408..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38245404
hg19245404
hg18245404
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv954405, nssv954401, nssv954406, nssv954408, nssv954402, nssv1151667, nssv954407, nssv1151668, nssv954400, nssv954403, nssv954404
SamplesNINDS_123, 1780854341_A
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)nsv588796
Frequency
Sample Size17421
Observed Gain3
Observed Loss8
Observed Complex0
Frequencyn/a


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