A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521042



Internal ID15101649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20042355..20084214hg38UCSC Ensembl
Innerchr22:20029878..20071737hg19UCSC Ensembl
Innerchr22:18409878..18451737hg18UCSC Ensembl
Innerchr22:18404432..18446291hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3841860
hg1941860
hg1841860
hg1741860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv685168, nssv688812, nssv680652
Samples
Known GenesDGCR8, TANGO2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521042
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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