A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517951



Internal ID15445244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28709570..28739901hg38UCSC Ensembl
Innerchr22:29105558..29135889hg19UCSC Ensembl
Innerchr22:27435558..27465889hg18UCSC Ensembl
Innerchr22:27430112..27460443hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3830332
hg1930332
hg1830332
hg1730332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695363
Samples
Known GenesCHEK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517951
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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