A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437566



Internal ID216151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65065933..65070058hg38UCSC Ensembl
chr2:65293067..65297192hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384126
hg194126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914586
Samples
Known GenesCEP68
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437566
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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