A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495749



Internal ID272848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46876576..46889150hg38UCSC Ensembl
chr13:47450711..47463285hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3812575
hg1912575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687508
Samples
Known GenesHTR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495749
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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