A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588771



Internal ID16376180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254439..25513844hg38UCSC Ensembl
Innerchr22:25650406..25909811hg19UCSC Ensembl
Innerchr22:23980406..24239811hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38259406
hg19259406
hg18259406
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8073n54
Supporting Variantsnssv1151634, nssv1151631, nssv1151633, nssv1151632, nssv954368, nssv954367
Samples1780862298_A, NINDS_21, 1780862584_A, NINDS_15
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)nsv588771
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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