A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv277n172



Internal ID22814651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3868074..3868500hg38UCSC Ensembl
chr16:3918075..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4432340, nsv4432339
SamplesNB08, NB09
Known GenesCREBBP
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv277n172
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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