A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678793



Internal ID15068759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38864027..38872780hg38UCSC Ensembl
Innerchr22:39260032..39268785hg19UCSC Ensembl
Innerchr22:37589978..37598731hg18UCSC Ensembl
Innerchr22:37584532..37593285hg17UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg388754
hg198754
hg188754
hg178754
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520961
Supporting Variants
Samples
Known GenesCBX6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678793
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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