A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462595



Internal ID240522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184845977..184847983hg38UCSC Ensembl
chr4:185767131..185769137hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382007
hg192007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962245
Samples
Known GenesLOC731424
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462595
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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