A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678688



Internal ID15068654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25268441..25514700hg38UCSC Ensembl
Innerchr22:25664408..25910667hg19UCSC Ensembl
Innerchr22:23994408..24240667hg18UCSC Ensembl
Innerchr22:23988962..24235221hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38246260
hg19246260
hg18246260
hg17246260
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)nssv678688
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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