A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657594



Internal ID15394246
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 loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519694
Supporting Variants
Samples
Known GenesARSA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv657594
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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