A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5102n54



Internal ID22772997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46395049..46466539hg38UCSC Ensembl
chr16:46428961..46500451hg19UCSC Ensembl
chr16:44986462..45057952hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3871491
hg1971491
hg1871491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv572477, nsv572473, nsv572480, nsv572499, nsv572500, nsv572469, nsv572474, nsv572495, nsv572465, nsv572471, nsv572466, nsv572496, nsv572472, nsv572460, nsv572467, nsv572504, nsv572488, nsv572464, nsv572505, nsv572470, nsv572478, nsv572482, nsv572491, nsv572468
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5102n54
Frequency
Sample Size17421
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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