A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685982



Internal ID15075948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18890274..19020595hg38UCSC Ensembl
Innerchr22:18877787..19008108hg19UCSC Ensembl
Innerchr22:17257787..17388108hg18UCSC Ensembl
Innerchr22:17252341..17382662hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38130322
hg19130322
hg18130322
hg17130322
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516997
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, PRODH
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685982
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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