A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437093



Internal ID215691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104369360..104388741hg38UCSC Ensembl
chr2:104985818..105005199hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3819382
hg1919382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916410
Samples
Known GenesLOC100287010
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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