A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588917



Internal ID16029640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33361841..33363997hg38UCSC Ensembl
Innerchr22:33757827..33759983hg19UCSC Ensembl
Innerchr22:32087827..32089983hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382157
hg192157
hg182157
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8088n54
Supporting Variantsnssv954677, nssv954675, nssv954680, nssv954674, nssv954676, nssv954679, nssv954678
Samples
Known GenesLARGE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588917
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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