A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3588080



Internal ID18886361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25262558..25514638hg38UCSC Ensembl
Innerchr22:25658525..25910605hg19UCSC Ensembl
Innerchr22:23988525..24240605hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38252081
hg19252081
hg18252081
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063154
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3588080
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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