A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv672509



Internal ID15062475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25528477hg38UCSC Ensembl
Innerchr22:25664408..25924444hg19UCSC Ensembl
Innerchr22:23994408..24254444hg18UCSC Ensembl
Innerchr22:23988962..24248998hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38260037
hg19260037
hg18260037
hg17260037
Variant TypeCNV gain
Copy Number
Allele State
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)nssv672509
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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