A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445481



Internal ID223828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234559311..234607443hg38UCSC Ensembl
chr2:235467955..235516087hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3848133
hg1948133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926998
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445481
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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