A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519694



Internal ID8413969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50625988..50648920hg38UCSC Ensembl
Innerchr22:51064416..51087348hg19UCSC Ensembl
Innerchr22:49411282..49434214hg18UCSC Ensembl
Innerchr22:49354560..49377492hg17UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3822933
hg1922933
hg1822933
hg1722933
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701036, nssv675115, nssv657594
Samples
Known GenesARSA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519694
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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