A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588127



Internal ID16375536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18143467..18146654hg38UCSC Ensembl
Innerchr22:18626234..18629421hg19UCSC Ensembl
Innerchr22:17006234..17009421hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383188
hg193188
hg183188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7960n54
Supporting Variantsnssv951523, nssv951516, nssv951517, nssv951527, nssv951526, nssv951521, nssv951520, nssv951525, nssv951522, nssv951519, nssv951518, nssv951524
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588127
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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