A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686263



Internal ID15076229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254439..25534512hg38UCSC Ensembl
Innerchr22:25650406..25930479hg19UCSC Ensembl
Innerchr22:23980406..24260479hg18UCSC Ensembl
Innerchr22:23974960..24255033hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38280074
hg19280074
hg18280074
hg17280074
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517205
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686263
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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