A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452544



Internal ID230696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67118259..67165188hg38UCSC Ensembl
chr2:67345391..67392320hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3846930
hg1946930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914606
Samples
Known GenesLOC644838
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452544
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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