A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446210



Internal ID224538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237579201..237579272hg38UCSC Ensembl
chr2:238487844..238487915hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926435
Samples
Known GenesRAB17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446210
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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