A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5873338



Internal ID22648284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55407114..55409054hg38UCSC Ensembl
chr2:55634250..55636190hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381941
hg191941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401910
Samples
Known GenesCCDC88A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5873338
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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