A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471757



Internal ID249485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116744797..116748356hg38UCSC Ensembl
chr5:116080493..116084052hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg383560
hg193560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16972679
Samples
Known GenesLOC102467223
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471757
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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