A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4451n100



Internal ID22790538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:15471515..15922838hg38UCSC Ensembl
chr22:16055171..16506448hg19UCSC Ensembl
chr22:14435171..14886448hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38451324
hg19451278
hg18451278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057319, nsv1060383, nsv1061600, nsv1063244, nsv1067507, nsv1065110, nsv1058410, nsv1055650, nsv1055888, nsv1066920, nsv1066508, nsv1067248, nsv1064425
Samples
Known GenesBMS1P17, BMS1P18, OR11H1, POTEH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4451n100
Frequency
Sample Size11257
Observed Gain713
Observed Loss101
Observed Complex0
Frequencyn/a


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