A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451692



Internal ID229867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168538967..168539264hg38UCSC Ensembl
chr2:169395477..169395774hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921833
Samples
Known GenesCERS6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451692
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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