A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705791



Internal ID15442443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46509636..46520383hg38UCSC Ensembl
Innerchr22:46905533..46916280hg19UCSC Ensembl
Innerchr22:45284197..45294944hg18UCSC Ensembl
Innerchr22:45226052..45236799hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810748
hg1910748
hg1810748
hg1710748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522435
Supporting Variants
Samples
Known GenesCELSR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705791
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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