A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442804



Internal ID221218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104816525..104817992hg38UCSC Ensembl
chr2:105432983..105434450hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916447
Samples
Known GenesLOC100506421
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442804
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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