A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600565



Internal ID18898846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25289858..25518352hg38UCSC Ensembl
Innerchr22:25685825..25914319hg19UCSC Ensembl
Innerchr22:24015825..24244319hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38228495
hg19228495
hg18228495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064774
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)nssv3600565
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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