A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4465n100



Internal ID20156081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17577691..17706530hg38UCSC Ensembl
chr22:18058736..18189296hg19UCSC Ensembl
chr22:16438736..16569296hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38128840
hg19130561
hg18130561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064931, nsv1055751, nsv1060653, nsv1066423
Samples
Known GenesATP6V1E1, BCL2L13, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4465n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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