A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441927



Internal ID220374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233310801..233317114hg38UCSC Ensembl
chr2:234219447..234225760hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386314
hg196314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925824
Samples
Known GenesSAG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441927
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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