A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4486n100



Internal ID20156102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21107318..21575360hg38UCSC Ensembl
chr22:21461607..21929649hg19UCSC Ensembl
chr22:19791607..20259649hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38468043
hg19468043
hg18468043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055654, nsv1061710, nsv1065383, nsv1056396, nsv1061697, nsv1060265, nsv1061373, nsv1056500, nsv1060205, nsv1056894
Samples
Known GenesBCRP2, FAM230B, HIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C, UBE2L3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4486n100
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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