A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4462n100



Internal ID22790549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16574845..16807330hg38UCSC Ensembl
chr22:17055735..17288220hg19UCSC Ensembl
chr22:15435735..15668220hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38232486
hg19232486
hg18232486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1059963, nsv1061912
Samples
Known GenesANKRD62P1-PARP4P3, CCT8L2, TPTEP1, XKR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4462n100
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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