A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450060



Internal ID228279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:77001423..77006449hg38UCSC Ensembl
chr2:77228549..77233575hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385027
hg195027
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914778
Samples
Known GenesLRRTM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450060
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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